부산대학교 도서관

Videbæk CS; Centre for Inherited Metabolic Diseases, Departments of Peadiatrics and Clinical Genetics, Section 4062, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark. Electronic address: Cecilie.videbaek.01@regionh.dk.; Dunø M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 58, 2100 Copenhagen, Denmark. Electronic address: morten.dunoe@regionh.dk.; Lindquist SG; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 58, 2100 Copenhagen, Denmark; Neurogenetics Clinic and Research Lab, Danish Dementia Research Centre, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Inge Lehmanns Vej 8, 2100 Copenhagen, Denmark. Electronic address: suzanne.lindquist@regionh.dk.; Larsen VA; Department of Radiology, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark. Electronic address: vibeke.andree.larsen@regionh.dk.; Kjær MW; Danish Center for Neonatal Screening, Department of Congenital Disorders, Statens Serum Institut, Copenhagen, Artillerivej 5, 2300 Copenhagen, Denmark. Electronic address: mwkj@ssi.dk.; Melgaard L; Danish Center for Neonatal Screening, Department of Congenital Disorders, Statens Serum Institut, Copenhagen, Artillerivej 5, 2300 Copenhagen, Denmark. Electronic address: lmg@ssi.dk.; Nielsen JE; Neurogenetics Clinic and Research Lab, Danish Dementia Research Centre, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Inge Lehmanns Vej 8, 2100 Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, 2100 Copenhagen, Denmark. Electronic address: joergen.erik.nielsen.01@regionh.dk.; Grønborg SW; Centre for Inherited Metabolic Diseases, Departments of Peadiatrics and Clinical Genetics, Section 4062, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark. Electronic address: sabine.groenborg@regionh.dk.; Lund AM; Centre for Inherited Metabolic Diseases, Departments of Peadiatrics and Clinical Genetics, Section 4062, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, 2100 Copenhagen, Denmark. Electronic address: allan.lund@regionh.dk.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Andersen PF; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark. Electronic address: peter.foerster.andersen@regionh.dk.; Ek J; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark.; Karstensen HG; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark.; Bak M; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark.; Grønborg SW; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark; Department of Paediatrics and Adolescent Medicine, Center for Rare Diseases, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Hove HB; Department of Paediatrics and Adolescent Medicine, Center for Rare Diseases, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Diness B; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Hjortshøj TD; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark.; Hammer TB; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark.; Høi-Hansen C; Department of Paediatrics and Adolescent Medicine, Center for Rare Diseases, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Schönewolf-Greulich B; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark.; Bisgaard AM; Department of Paediatrics and Adolescent Medicine, Center for Rare Diseases, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Duno M; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark.; Østergaard E; Department of Clinical Genetics, Center of Diagnostics. Copenhagen University Hospital -Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Ødum SF; Department of Nephrology and Endocrinology, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark.; Grønborg SW; Center for Inherited Metabolic Diseases, Department of Pediatrics and Adolescent Medicine and Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark.; Main KM; Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark.; International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark.; Klose M; Department of Nephrology and Endocrinology, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark.

Publisher: Oxford University Press on behalf of the Endocrine Society Country of Publication: England NLM ID: 9918609886906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2755-1520 (Electronic) Linking ISSN: 27551520 NLM ISO Abbreviation: JCEM Case Rep Subsets: PubMed not MEDLINE

Mengel E; SphinCS, Institute of Clinical Science for LSD, Hochheim, Germany. Electronic address: Eugen.Mengel@sphincs.de.; Da Riol RM; Regional Coordination Center for Rare Diseases, Academic Hospital 'Santa Maria della Misericordia', Udine, Italy.; Del Toro M; Pediatric Neurology Department, Vall d'Hebron University Hospital, Barcelona, Spain.; Deodato F; Division of Metabolic Diseases and Hepatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Gautschi M; Department of Paediatrics, Division of Endocrinology, Diabetology and Metabolism, and Institute of Clinical Chemistry, Inselspital, University Hospital Bern, Bern, Switzerland.; Grunewald S; Department of Metabolic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, NIHR Biomedical Research Centre, London, UK.; Grønborg SW; Center for Inherited Metabolic Diseases, Department of Pediatrics and Adolescent Medicine and Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Harmatz P; Gastroenterology and Nutrition, University of California, San Francisco Benioff Children's Hospital Oakland, Oakland, CA, USA.; Hennermann JB; University Medical Center Mainz, Center for Pediatric and Adolescent Medicine, Villa Metabolica, Mainz, Germany.; Héron B; Sorbonne University, Department of Pediatric Neurology -Development Pathology, Reference Center for Lysosomal Diseases, University Hospital Armand Trousseau, AP-HP.SU, FHU I2D2, Paris, France.; Maier EM; Department of Inborn Errors of Metabolism, University of Munich Children's Hospital, Munich, Germany.; Santra S; Department of Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK.; Sharma R; Salford Royal NHS Foundation Trust, Salford, UK.; Tylki-Szymanska A; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Institute, Warsaw, Poland.; Cording M; Zevra Therapeutics, Copenhagen, Denmark.; Himmelstrup L; Zevra Therapeutics, Copenhagen, Denmark.; Guenther S; Zevra Therapeutics, Celebration, FL, USA.; Dali CÍ; Zevra Therapeutics, Copenhagen, Denmark.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Gao Q; Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark. qian.gao@sund.ku.dk.; Khan A; Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark.; Christensen M; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Zhou X; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Lund A; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Center for Inherited Metabolic Diseases, Departments of Pediatrics and Adolescent Medicine and Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Grønborg SW; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Center for Inherited Metabolic Diseases, Departments of Pediatrics and Adolescent Medicine and Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Wibrand F; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Moritz T; Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark. thomas.moritz@sund.ku.dk.

Publisher: Springer Country of Publication: United States NLM ID: 101274889 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-3890 (Electronic) Linking ISSN: 15733882 NLM ISO Abbreviation: Metabolomics Subsets: MEDLINE

Asbreuk MABC; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC location Vrije Universiteit, the Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, the Netherlands.; Medicine for Society, Platform at Amsterdam UMC location University of Amsterdam, the Netherlands.; Schoenmakers DH; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC location Vrije Universiteit, the Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, the Netherlands.; Medicine for Society, Platform at Amsterdam UMC location University of Amsterdam, the Netherlands.; Adang LA; Children's Hospital of Philadelphia, PA.; Department of Neurology, University of Pennsylvania, Philadelphia.; Beerepoot S; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC location Vrije Universiteit, the Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, the Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Bergner C; Leukodystrophy Center, Department of Neurology, University Hospital Leipzig, Germany.; Bley A; University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany.; Boelens JJ; Department of Pediatrics, Stem Cell Transplant and Cellular Therapies, Memorial Sloan Kettering Cancer Center, New York, NY.; Bugiani M; Department of Paediatrics/Child Neurology, VU University Medical Centre, Amsterdam Neuroscience, the Netherlands.; Department of Pathology, VU University Medical Centre, Amsterdam Neuroscience, the Netherlands.; Calbi V; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy.; Pediatric Immuno-Hematology Unit, IRCCS Ospedale San Raffaele Milan, Italy.; García-Cazorla À; Neurometabolic Unit, Neurology Department, Hospital Sant Joan de D'eu, Barcelona, Spain.; Eklund EA; Pediatrics, Clinical Sciences, Lund University, Sweden.; Fumagalli F; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy.; Pediatric Immuno-Hematology Unit, IRCCS Ospedale San Raffaele Milan, Italy.; Unit of Neurology, IRCCS Ospedale San Raffaele Milan, Italy.; Grønborg SW; Center for Inherited Metabolic Diseases, Department of Pediatrics and Adolescent Medicine and Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Denmark.; Groeschel S; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tübingen, University Hospital Tübingen, Germany.; Van Hasselt PM; Department of Metabolic Diseases, University Medical Center Utrecht, the Netherlands.; Hollak CEM; Medicine for Society, Platform at Amsterdam UMC location University of Amsterdam, the Netherlands.; Department of Endocrinology and Metabolism, Amsterdam UMC location University of Amsterdam, the Netherlands.; Jones SA; Genomic Medicine, Manchester University NHS FT, United Kingdom.; de Koning TJ; Pediatrics, Clinical Sciences, Lund University, Sweden.; Department of Pediatrics, Lund University, Sweden.; Department of Neurology and Genetics, University of Groningen and University of Medical Center Groningen, the Netherlands.; van Kuilenburg ABP; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Gastroenterology & Metabolism, the Netherlands.; Laugwitz L; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tuebingen, University Hospital Tübingen, Germany.; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Germany.; Lindemans C; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Pediatric Hematopoietic Stem Cell Transplantation, UMC Utrecht and Princess Maxima Center, the Netherlands.; Regenerative Medicine Institute, University Medical Center Utrecht, the Netherlands.; Mochel F; Reference Center for Adult Leukodystrophy, Department of Medical Genetics, Sorbonne University, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, France.; Øberg A; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Norway.; Ram D; Department of Pediatric Neurology, Royal Manchester Children's Hospital, United Kingdom.; Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Sevin C; Reference Center for Leukodystrophies, Pediatric Neurology Department, Hôpital Bicêtre, Le Kremlin Bicêtre, France.; Sinha J; Department of Pediatric Neurology, Center of Neurosciences, Narayana Hospital, RN Tagore Hospital, Kolkata, India.; Vaz FM; Laboratory Genetic Metabolic Diseases, Department of Laboratory Medicine and Pediatrics, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, the Netherlands.; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, the Netherlands; and.; Zerem A; Pediatric Neurology Institute, Leukodystrophy Center, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Faculty of Medicine, Tel Aviv University, Israel.; Wolf NI; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC location Vrije Universiteit, the Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, the Netherlands.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Schoenmakers DH; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC Location Vrije Universiteit, Amsterdam, the Netherlands; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, the Netherlands; Medicine for Society, Platform at Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands.; Asbreuk MABC; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC Location Vrije Universiteit, Amsterdam, the Netherlands; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, the Netherlands; Medicine for Society, Platform at Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands.; Martin T; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.; Datema M; Department of Endocrinology and Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands.; Beerepoot S; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC Location Vrije Universiteit, Amsterdam, the Netherlands; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, the Netherlands; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Inbar-Feigenberg M; The Hospital for Sick Children, 555 University Avenue, Division of Clinical & Metabolic Genetics, Toronto, Ontario, Canada, M5G 1X8.; Groeschel S; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tübingen, University Hospital Tübingen, 72016, Tübingen, Germany.; Kehrer C; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tübingen, University Hospital Tübingen, 72016, Tübingen, Germany.; Øberg A; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Norway.; Sevin C; Reference Center for Leukodystrophies, Pediatric Neurology Department, Hôpital Bicêtre, Le Kremlin Bicêtre, France.; Fumagalli F; Pediatric Immuno-Hematology Unit, Ospedale San Raffaele Milan, Italy; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy; Unit of Neurology, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Bergner CG; Leukodystrophy Center, Department of Neurology, University Hospital Leipzig, Germany.; Vieira P; Department of Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, 90029, Oulu, Finland; Research Unit of Clinical Medicine and Medical Research Center, Oulu University Hospital and University of Oulu, 90014, Oulu, Finland.; Bley A; University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany.; Uusimaa J; Department of Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, 90029, Oulu, Finland; Research Unit of Clinical Medicine and Medical Research Center, Oulu University Hospital and University of Oulu, 90014, Oulu, Finland.; Horn MA; Department of Neurology, Oslo University Hospital, Oslo, Norway.; Brožová K; Department of Pediatric Neurology, Thomayer University Hospital, Prague, Czech Republic; Third Medical Faculty, Charles University, Prague, Czech Republic.; Stögmann E; Department of Clinical Neurology, Medical University of Vienna, 1090, Vienna, Austria.; Pichler H; Department of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Medical University of Vienna, Austria.; Lüftinger R; Department of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Medical University of Vienna, Austria.; Eklund EA; Pediatrics, Clinical Sciences, Lund University, Lund, Sweden.; Mochel F; Reference Center for Adult Leukodystrophy, Department of Medical Genetics Sorbonne University, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France.; Adang LA; Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA.; Laugwitz L; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tübingen, University Hospital Tübingen, 72016, Tübingen, Germany.; Boelens JJ; Center for Translational Immunology, University Medical Center Utrecht, Utrecht, the Netherlands; Department of Pediatrics, Stem Cell Transplant and Cellular Therapies, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Calbi V; Pediatric Immuno-Hematology Unit, Ospedale San Raffaele Milan, Italy; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy.; Darling A; Metabolic Unit, Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; García-Cazorla Á; Metabolic Unit, Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Grønborg SW; Center for Inherited Metabolic Diseases, Department of Pediatrics and Adolescent Medicine and Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Lindemans CA; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Department of Pediatric Hematopoietic Stem Cell Transplantation, UMC Utrecht and Princess Maxima Center, the Netherlands; Regenerative Medicine Institute, University Medical Center Utrecht, Utrecht, the Netherlands.; van Hasselt PM; Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, the Netherlands.; Hollak CEM; Medicine for Society, Platform at Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands; Department of Endocrinology and Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands.; de Koning TJ; Pediatrics, Department of Clinical Sciences, Lund University, Lund, Sweden; Department of Neurology and Genetics, University of Groningen and University of Medical Center Groningen, Groningen, the Netherlands.; Ram D; Department of Pediatric Neurology, Royal Manchester Children's Hospital, Manchester, UK.; Dekker H; VKS, Dutch Patient Organization for Metabolic Diseases, Zwolle, the Netherlands; United for Metabolic Diseases (UMD), the Netherlands.; Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Zerem A; Pediatric Neurology Institute, Leukodystrophy Center, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Graessner H; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.; Wolf NI; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC Location Vrije Universiteit, Amsterdam, the Netherlands; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, the Netherlands; Amsterdam Neuroscience, Amsterdam UMC, Vrije Universiteit, Amsterdam, the Netherlands. Electronic address: n.wolf@amsterdamumc.nl.

Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Schoenmakers DH; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma's Children's Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Cellular and Molecular Mechanisms, Amsterdam Neuroscience, Amsterdam, The Netherlands.; Medicine for Society, Platform at Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Mochel F; Hôpital La Pitié-Salpêtrière, Assistance-Publique Hôpitaux de Paris, Inserm U1127, Paris, France.; Adang LA; Division of Child Neurology, Children's Hospital of Philadelphia, Philadelphia, USA.; Boelens JJ; Stem Cell Transplantation and Cellular Therapies Program, Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Calbi V; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Pediatric Immunohematology Unit and Neurology and Neurophysiology Unit, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy.; Pediatric Immunohematology Unit and BMT Program, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy.; Eklund EA; Section for Pediatric Neurology, Skåne University Hospital and Clinical Sciences, Lund, Lund University, 221 84, Lund, Sweden.; Grønborg SW; Center for Inherited Metabolic Diseases, Department of Pediatrics and Adolescent Medicine and Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Fumagalli F; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Pediatric Immunohematology Unit and Neurology and Neurophysiology Unit, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy.; Groeschel S; Department of Paediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany.; Lindemans C; Princess Máxima Center for Pediatric Oncology, Heidelberglaan 25, 3584 CS, Utrecht, The Netherlands.; Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584 EA, Utrecht, The Netherlands.; Sevin C; Reference Center for Leukodystrophies, Pediatric Neurology Department, Hôpital Bicêtre, Le Kremlin Bicêtre, France.; Schöls L; Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center of Neurodeenerative Diseases (DZNE), Tübingen, Germany.; Ram D; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, UK.; Zerem A; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Graessner H; Institute for Medical Genetics and Applied Genomics, Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma's Children's Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. n.wolf@amsterdamumc.nl.; Cellular and Molecular Mechanisms, Amsterdam Neuroscience, Amsterdam, The Netherlands. n.wolf@amsterdamumc.nl.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Mengel E; SphinCS GmbH, Institute of Clinical Science for LSD, Hochheim, Germany.; Patterson MC; Departments of Neurology, Pediatrics and Medical Genetics, Mayo Clinic, Rochester, MN, USA.; Da Riol RM; Regional Coordination Center for Rare Diseases, Academic Hospital 'Santa Maria della Misericordia', Udine, Italy.; Del Toro M; Pediatric Neurology Department, Vall d'Hebron University Hospital, Barcelona, Spain.; Deodato F; Division of Metabolic Disease and Hepatology, Ospedale Pediatrico Bambino Gesù', IRCCS, Rome, Italy.; Gautschi M; Department of Paediatrics, Division of Endocrinology, Diabetology and Metabolism, and Institute of Clinical Chemistry, Inselspital, University Hospital Bern, Bern, Switzerland.; Grunewald S; Department of Metabolic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, NIHR Biomedical Research Centre, London, UK.; Grønborg SW; Center for Inherited Metabolic Diseases, Department of Pediatrics and Adolescent Medicine and Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Harmatz P; Gastroenterology and Nutrition, University of California, San Francisco Benioff Children's Hospital Oakland, Oakland, CA, USA.; Hennermann JB; University Medical Center Mainz, Center for Pediatric and Adolescent Medicine, Villa Metabolica, Mainz, Germany.; Héron B; Sorbonne University, Department of Pediatric Neurology -Development Pathology, Reference Center for Lysosomal Diseases, University Hospital Armand Trousseau, AP-HP.SU, FHU I2D2 Paris, France.; Maier EM; Department of Inborn Errors of Metabolism, University of Munich Children's Hospital, Munich, Germany.; Roubertie A; Department of Neuropediatrics, Centre Hospitalier Universitaire de Montpellier, INM, INSERM U 1283, Montpellier, France.; Santra S; Department of Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK.; Tylki-Szymanska A; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Institute, Warsaw, Poland.; LaGorio L; Department of Communication Sciences and Disorders, College of Health Sciences, Rush University, Chicago, IL, USA.; Berry-Kravis E; Departments of Pediatrics, Neurological Sciences, Anatomy and Cell Biology and the RUSH Pediatric Neurosciences F.A.S.T. Center for Translational Research, Rush University Medical Center, Chicago, IL, USA.; Porter FD; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.; Solomon B; Rehabilitation Medicine Department, Speech Language Pathology Section, Warren G, Magnuson Clinical Research Center, National Institutes of Health, Bethesda, MD, USA.; Himmelstrup L; Zevra Therapeutics, Copenhagen, Denmark.; Mickle T; Zevra Therapeutics, Celebration, FL, USA.; Guenther S; Zevra Therapeutics, Celebration, FL, USA.; Dali CÍ; Zevra Therapeutics, Copenhagen, Denmark.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

Sell LB; Department of Cellular and Integrative Physiology, Joe R. and Teresa Lozano Long School of Medicine, University of Texas Health Science Center San Antonio, San Antonio, Texas, USA.; Zabel C; Department of Cellular and Integrative Physiology, Joe R. and Teresa Lozano Long School of Medicine, University of Texas Health Science Center San Antonio, San Antonio, Texas, USA.; Grønborg SW; Center for Rare Diseases, Department of Pediatrics and Adolescent Medicine and Department of Genetics, University Hospital Copenhagen Rigshospitalet, Copenhagen, Denmark.; Shi Q; Department of Cellular and Integrative Physiology, Joe R. and Teresa Lozano Long School of Medicine, University of Texas Health Science Center San Antonio, San Antonio, Texas, USA.; Bhat MA; Department of Cellular and Integrative Physiology, Joe R. and Teresa Lozano Long School of Medicine, University of Texas Health Science Center San Antonio, San Antonio, Texas, USA.

Publisher: Wiley Interscience Country of Publication: United States NLM ID: 7600111 Publication Model: Print Cited Medium: Internet ISSN: 1097-4547 (Electronic) Linking ISSN: 03604012 NLM ISO Abbreviation: J Neurosci Res Subsets: MEDLINE

Amarasekera SSC; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC 3010, Australia.; Lake NJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Genetics, Yale School of Medicine, New Haven, CT 06510 USA.; Calvo SE; Broad Institute, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02446, USA.; Grønborg SW; Department of Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen 2100, Denmark.; Center for Inherited Metabolic Disease, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen 2100, Denmark.; Krzesinski EI; Monash Genetics, Monash Health, Melbourne, VIC 3168 Australia.; Department of Paediatrics, Monash University, Melbourne, VIC 3168 Australia.; Amor DJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Fahey MC; Monash Genetics, Monash Health, Melbourne, VIC 3168 Australia.; Department of Paediatrics, Monash University, Melbourne, VIC 3168 Australia.; Simons C; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Wibrand F; Department of Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen 2100, Denmark.; Mootha VK; Broad Institute, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02446, USA.; Lek M; Department of Genetics, Yale School of Medicine, New Haven, CT 06510 USA.; Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia.; Department of Pathology, University of Melbourne, Melbourne, VIC 3010, Australia.; Stark Z; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia.; Østergaard E; Department of Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen 2100, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen 2200, Denmark.; Christodoulou J; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia.; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia.; Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia.; Stroud DA; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC 3010, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Compton AG; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Videbæk CS; Department of Inherited Metabolic Diseases, Copenhagen University Hospital Rigshopitalet, 2100 Copenhagen, Denmark.; Grønborg SW; Department of Inherited Metabolic Diseases, Copenhagen University Hospital Rigshopitalet, 2100 Copenhagen, Denmark.; Lund AM; Department of Inherited Metabolic Diseases, Copenhagen University Hospital Rigshopitalet, 2100 Copenhagen, Denmark.; Olesen ML; Department of Gynecology, Copenhagen University Hospital Rigshopitalet, 2100 Copenhagen, Denmark.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

Johannesen KM; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, 5230 Odense, Denmark.; Liu Y; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Koko M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Gjerulfsen CE; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Sonnenberg L; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany.; Schubert J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Fenger CD; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Eltokhi A; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Rannap M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Koch NA; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany.; Lauxmann S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany.; Krüger J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Kegele J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Canafoglia L; Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologio Carlo Besta, 20125 Milan, Italy.; Franceschetti S; Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologio Carlo Besta, 20125 Milan, Italy.; Mayer T; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany.; Rebstock J; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany.; Zacher P; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany.; Ruf S; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tuebingen, Germany.; Alber M; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tuebingen, Germany.; Sterbova K; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic.; Lassuthová P; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic.; Vlckova M; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic.; Lemke JR; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany.; Heine C; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany.; Wieczorek D; Institute of Human Genetics, University Clinic, Heinrich-Heine-University, 40210 Düsseldorf, Germany.; Kroell-Seger J; Children's Department, Swiss Epilepsy Centre, Clinic Lengg, 8001 Zurich, Switzerland.; Lund C; National Centre for Rare Epilepsy-Related Disorders, Oslo University Hospital, 0001 Oslo, Norway.; Klein KM; Departments of Clinical Neurosciences, Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada.; Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, AB T6G 2T4, Canada.; Rho JM; Section of Pediatric Neurology, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada.; Ho AW; Section of Pediatric Neurology, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada.; Masnada S; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy.; Veggiotti P; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy.; 'L. Sacco' Department of Biomedical and Clinical Sciences, University of Milan, 20157 Milan, Italy.; Giordano L; Child Neuropsychiatric Unit, Civilian Hospital, 25100 Brescia, Italy.; Accorsi P; Child Neuropsychiatric Unit, Civilian Hospital, 25100 Brescia, Italy.; Hoei-Hansen CE; Department of Pediatrics, Copenhagen University Hospital Rigshospitalet, 2200 Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16121 Genova, Italy.; IRCCS 'G. Gaslini' Institute, 16121 Genoa, Italy.; Zara F; IRCCS 'G. Gaslini' Institute, 16121 Genoa, Italy.; Verhelst H; Department of Pediatrics, Division of Pediatric Neurology, Gent University Hospital, 9042 Gent, Belgium.; Verhoeven JS; Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, 5591 Heeze, The Netherlands.; Braakman HMH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, 6525 Nijmegen, The Netherlands.; van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3553 Utrecht, The Netherlands.; Harder AVE; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3553 Utrecht, The Netherlands.; Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3553 Utrecht, The Netherlands.; Pendziwiat M; Department of Neuropediatrics, Universitätsklinikum Schleswig Holstein Campus Kiel, 24106 Kiel, Germany.; Lebon S; Pediatric Neurology and Neurorehabilitation Unit, Woman Mother Child Department, Lausanne University Hospital (CHUV), 1000 Lausanne, Switzerland.; University of Lausanne, 1000 Lausanne, Switzerland.; Vaccarezza M; Department of Pediatric Neurology, Hospital Italiano de Buenos Aires, C1428 Buenos Aires, Argentina.; Le NM; Center for Pediatric Neurology, Cleveland Clinic, Cleveland, OH 44102, USA.; Christensen J; Department of Neurology, Aarhus University Hospital, 8000 Aarhus, Denmark.; Grønborg S; Center for Rare Diseases, Department of Pediatrics and Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2200 Copenhagen, Denmark.; Scherer SW; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON 66777, Canada.; The Centre for Applied Genomics and Department of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON 66777, Canada.; Howe J; Department of Neuropediatrics, University Hospital Bonn, 53229 Bonn, Germany.; Fazeli W; Institute for Molecular and Behavioral Neuroscience, University of Cologne, 50667 Cologne, Germany.; Neurology Department, The Royal Children's Hospital Melbourne, 3002 Melbourne, Australia.; Howell KB; Neurology Department, The Royal Children's Hospital Melbourne, 3002 Melbourne, Australia.; Murdoch Children's Research Institute, 3052 Parkville, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, 3052 Parkville, Australia.; Leventer R; Neurology Department, The Royal Children's Hospital Melbourne, 3002 Melbourne, Australia.; Murdoch Children's Research Institute, 3052 Parkville, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, 3052 Parkville, Australia.; Stutterd C; Murdoch Children's Research Institute, 3052 Parkville, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, 3052 Parkville, Australia.; Walsh S; Department of Neuropediatrics, Children's Hospital, University Hospital Carl Gustav Carus, Technical University, 1099 Dresden, Germany.; Gerard M; Genetics Department, CHU Côte de Nacre, 14118 Caen, France.; Gerard B; Genetics Department, CHRU Strasbourg, 67000 Strasbourg, France.; Matricardi S; Child Neurology and Psychiatry Unit, Children's Hospital G. Salesi, 60121 Ancona, Italy.; Bonardi CM; Department of Woman's and Child's Health, Padova University Hospital, 35100 Padova, Italy.; Sartori S; Child Neurology and Clinical Neurophysiology Unit, Padova University Hospital, 35100 Padova, Italy.; Berger A; Department of Neuropediatrics, Klinikum Weiden, Kliniken Nordoberpfalz AG, 92637 Weiden, Germany.; Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, 00-034 Warsaw, Poland.; Mastrangelo M; Pediatric Neurology Unit, Vittore Buzzi Hospital, ASST Fatebenefratelli Sacco, 20100 Milan, Italy.; Darra F; Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, 37121 Verona, Italy.; Vøllo A; Department of Pediatrics, Oestfold Hospital, 1712 Graalum, Norway.; Motazacker MM; Laboratory of Genome Diagnostics, Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1019 Amsterdam, Netherlands.; Lakeman P; Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, 1019 Amsterdam, Netherlands.; Nizon M; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France.; Betzler C; Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik, 83569 Vogtareuth, Germany.; Research Institute 'Rehabilitation, Transition, Palliation', PMU Salzburg, 5020 Salzburg, Austria.; Altuzarra C; Department of Pediatrics, St. Jacques Hospital, 25000 Besançon, France.; Caume R; Clinique de Génétique Guy Fontaine, CHU Lille, 59000, Lille, France.; Roubertie A; Département de Neuropédiatrie, INSERM, CHU Montpellier, 34000 Montpellier, France.; Gélisse P; Département de Neuropédiatrie, INSERM, CHU Montpellier, 34000 Montpellier, France.; Marini C; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50131 Florence, Italy.; Guerrini R; IRCCS Stella Maris, 56121 Pisa, Italy.; Bilan F; Service de Génétique, Centre Hospitalier Universitaire de Poitiers, 86021 Poitiers, France.; Tibussek D; Child Neurology, Center for Pediatric and Teenage Health Care, 53757 Sankt Augustin, Germany.; Koch-Hogrebe M; Vestische Kinder- und Jugendklinik, 45711 Datteln, Germany.; Perry MS; Justin Neurosciences Center, Cook Children's Medical Center, Fort Worth, TX 76101, USA.; Ichikawa S; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA 92637, USA.; Dadali E; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia.; Sharkov A; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia.; Genomed Ltd., 100000 Moscow, Russia.; Mishina I; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Abramov M; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia.; Kanivets I; Svt. Luka's Institute of Child Neurology & Epilepsy, 100000 Moscow, Russia.; Russian Medical Academy of Continuous Professional Education, 100000 Moscow, Russia.; Korostelev S; Svt. Luka's Institute of Child Neurology & Epilepsy, 100000 Moscow, Russia.; I.M. Sechenov First Moscow State Medical University, 100000 Moscow, Russia.; Kutsev S; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Wain KE; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA 17837, USA.; Eisenhauer N; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA 17837, USA.; Wagner M; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA 17837, USA.; Savatt JM; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA 17837, USA.; Müller-Schlüter K; Epilepsy Center for Children, University Hospital Neuruppin, Brandenburg Medical School, 16816 Neuruppin, Germany.; Bassan H; Pediatric Neurology & Development Center, Shamir Medical Center (Assaf Harofe), Be'er Ya'akov, Israel.; Sackler Faculty of Medicine, Tel Aviv University, 5296001 Tel Aviv, Israel.; Borovikov A; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Nassogne MC; Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1000 Brussels, Belgium.; Destrée A; Institute for Pathology and Genetics, 6040 Gosselies, Belgium.; Schoonjans AS; Department of Pediatrics and Pediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium.; Meuwissen M; Pediatric Neurology, Marie Curie Hospital-CHU Charleroi, 6032 Charleroi, Belgium.; Buzatu M; Pediatric Neurology, Marie Curie Hospital-CHU Charleroi, 6032 Charleroi, Belgium.; Jansen A; Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, 1050 Brussels, Belgium.; Scalais E; Pediatric Neurology Unit, Department of Pediatrics, Centre Hospitalier de Luxembourg, 1313 Luxembourg, Luxembourg.; Srivastava S; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02108, USA.; Tan WH; Department of Genetics, Boston Children's Hospital, Boston, MA 02108, USA.; Olson HE; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02108, USA.; Epilepsy Genetics Program, Boston Children's Hospital, Boston, MA 02108, USA.; Loddenkemper T; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02108, USA.; Poduri A; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02108, USA.; Epilepsy Genetics Program, Boston Children's Hospital, Boston, MA 02108, USA.; Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy Neurogenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy Neurogenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19104USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104USA.; Institute of Clinical Molecular Biology, Kiel University, 24105 Kiel, Germany.; Department of Neuropediatrics, Kiel University, 24105 Kiel, Germany.; Fitzgerald MP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy Neurogenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19104USA.; Institute of Clinical Molecular Biology, Kiel University, 24105 Kiel, Germany.; Goldberg EM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy Neurogenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Roser T; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Children's Hospital, Ludwig-Maximilian-University of Munich, 80331 Munich, Germany.; Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Children's Hospital, Ludwig-Maximilian-University of Munich, 80331 Munich, Germany.; Comprehensive Epilepsy Center, Ludwig-Maximilian- University of Munich, 80331 Munich, Germany.; Brünger T; Luxembourg Centre for Systems Biomedicine (LCSB), University Luxembourg, L-4243 Esch-sur-Alzette, Luxembourg.; May P; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44102, USA.; Lal D; Luxembourg Centre for Systems Biomedicine (LCSB), University Luxembourg, L-4243 Esch-sur-Alzette, Luxembourg.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44102, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and M.I.T ., Cambridge, MA 02138, USA.; Cologne Center for Genomics (CCG), University of Cologne, 50667 Cologne, Germany.; Lederer D; Institute for Pathology and Genetics, 6040 Gosselies, Belgium.; Rubboli G; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; University of Copenhagen, 2200 Copenhagen, Denmark.; Heyne HO; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany.; Finnish Institute for Molecular Medicine (FIMM), University of Helsinki, 320 Helsinki, Finland.; Program for Medical and Population Genetics/Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02138, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02108, USA.; Lesca G; Department of Medical Genetics, Groupement Hospitalier Est and ERN EpiCARE, University Hospitals of Lyon (HCL), 69001 Lyon, France.; Institut Neuromyogène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Université Claude Bernard Lyon 1, 69001 Lyon, France.; Hedrich UBS; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Benda J; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany.; Gardella E; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, 5230 Odense, Denmark.; Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, 5230 Odense, Denmark.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Laugwitz L; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tuebingen, University Hospital Tübingen, 72016, Tübingen, Germany; Institute for Medical Genetics and Applied Genomics, University of Tübingen, 72070, Tübingen, Germany. Electronic address: lucia.laugwitz@med.uni-tuebingen.de.; Schoenmakers DH; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC Location Vrije Universiteit, Amsterdam, the Netherlands; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, the Netherlands; Medicine for Society, Platform at Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands.; Adang LA; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Beck-Woedl S; Institute for Medical Genetics and Applied Genomics, University of Tübingen, 72070, Tübingen, Germany.; Bergner C; Leukodystrophy Center, Departement of Neurology, University Hospital Leipzig, Germany.; Bernard G; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada; Department Specialized Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada.; Bley A; University Children's Hospital Hamburg, Germany.; Boyer A; ELA International, Luxembourg.; Calbi V; Pediatric Immuno-Hematology Unit, Ospedale San Raffaele Milan, Italy; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy.; Dekker H; Dutch Association for Inherited Metabolic Diseases (VKS), the Netherlands.; Eichler F; Massachusetts General Hospital, Boston, MA, USA.; Eklund E; Pediatrics, Clinical Sciences, Lund University, Sweden.; Fumagalli F; Pediatric Immuno-Hematology Unit, Ospedale San Raffaele Milan, Italy; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy; Unit of Neurology, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Gavazzi F; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Grønborg SW; Center for Inherited Metabolic Diseases, Department of Pediatrics and Adolescent Medicine and Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; van Hasselt P; Department of Metabolic Diseases, University Medical Center Utrecht, the Netherlands.; Langeveld M; Department of Endocrinology and Metabolism, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism (AGEM) Research Institute, University of Amsterdam, Amsterdam, the Netherlands.; Lindemans C; Department of Pediatric Hematopoietic Stem Cell Transplantation, UMC Utrecht and Princess Maxima Center, the Netherlands.; Mochel F; Reference Center for Adult Leukodystrophy, Department of Medical Genetics, Sorbonne University, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France.; Oberg A; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Norway.; Ram D; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, UK.; Saunier-Vivar E; ELA International, Luxembourg.; Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Scholz M; ELA Deutschland e.V., Neustadt-Speckswinkel, Germany.; Sevin C; Université Paris-Saclay, Hôpital Bicêtre, Paris, France.; Zerem A; Pediatric Neurology Institute, Leukodystrophy Center, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Wolf NI; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC Location Vrije Universiteit, Amsterdam, the Netherlands; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, the Netherlands.; Groeschel S; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tuebingen, University Hospital Tübingen, 72016, Tübingen, Germany.

Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Videbæk C; Centre for Inherited Metabolic Diseases, Departments of Clinical Genetics and Paediatrics, Copenhagen University Hospital, Rigshospitalet, Denmark. Electronic address: cecilie.videbaek.01@regionh.dk.; Melgaard L; Danish Center for Neonatal Screening, Clinical Mass Spectrometry, Statens Serum Institut, Denmark.; Lund AM; Centre for Inherited Metabolic Diseases, Departments of Clinical Genetics and Paediatrics, Copenhagen University Hospital, Rigshospitalet, Denmark.; Grønborg SW; Centre for Inherited Metabolic Diseases, Departments of Clinical Genetics and Paediatrics, Copenhagen University Hospital, Rigshospitalet, Denmark.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Peluso F; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.; Caraffi SG; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.; Contrò G; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.; Valeri L; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.; Department of Pediatrics, University of Modena and Reggio Emilia Faculty of Medicine and Surgery, Modena, Emilia-Romagna, Italy.; Napoli M; Neuroradiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.; Carboni G; Radiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.; Seth A; Radiology, Rigshospitalet, Kobenhavn, Denmark.; Zuntini R; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.; Coccia E; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.; Astrea G; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy.; Bisgaard AM; Center for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Kobenhavn, Denmark.; Ivanovski I; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Maitz S; Service of Medical Genetics, IOSI, EOC, Lugano, Switzerland.; Brischoux-Boucher E; Hunter Genetics, John Hunter Hospital, New Lambton Heights, New South Wales, Australia.; Carter MT; The University of Newcastle, Callaghan, New South Wales, Australia.; Dentici ML; Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark.; Devriendt K; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Bellini M; Department of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy.; Digilio MC; Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.; Doja A; The University of Newcastle, Callaghan, New South Wales, Australia.; Dyment DA; The University of Newcastle, Callaghan, New South Wales, Australia.; Farholt S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands.; Ferreira CR; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Coimbra, Portugal.; Wolfe LA; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Coimbra, Portugal.; Gahl WA; National Human Genome Research Institute, Bethesda, Maryland, USA.; Gnazzo M; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy.; Goel H; Hunter Genetics, John Hunter Hospital, New Lambton Heights, New South Wales, Australia.; The University of Newcastle, Callaghan, New South Wales, Australia.; Grønborg SW; Center for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Kobenhavn, Denmark.; Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark.; Hammer T; Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark.; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Iughetti L; Department of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy.; Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands.; Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands.; Lepri FR; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy.; Lemire G; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Ontario, Canada.; Louro P; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Coimbra, Portugal.; McCullagh G; Royal Manchester Children's Hospital and University of Manchester, Royal Manchester Children's Hospital, Manchester, Manchester, UK.; Madeo SF; Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.; Milone A; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy.; Milone R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy.; Nielsen JEK; Department of Pediatrics, Zealand University Hospital Roskilde, Roskilde, Sjaelland, Denmark.; Novelli A; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands.; Pascarella R; Neuroradiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.; Pippucci T; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico S Orsola, Bologna, Emilia-Romagna, Italy.; Ricca I; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy.; Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Sawyer S; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Ontario, Canada.; Falkenberg Smeland M; Department of Medical Genetics, University Hospital of North Norway, Tromso, Troms, Norway.; Stegmann S; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, Limburg, Netherlands.; Stumpel CT; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, Limburg, Netherlands.; Goel A; University of Newcastle, Callaghan, The University of Newcastle, Callaghan, New South Wales, Australia.; Taylor JM; Genetic Health Service - Northern Hub, Genetic Health Service - Northern Hub, Aukland, New Zealand.; Barbuti D; Radiology and Bioimaging Unit, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy.; Soresina A; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Ex-perimental Sciences, ASST Spedali Civili di Brescia, Brescia, Lombardia, Italy.; Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Toscana, Italy.; Cavalli A; Child Neurology and Psychiatry Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.; Fusco C; Child Neurology and Psychiatry Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.; Iascone M; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Lombardia, Italy.; Van Maldergem L; Centre de génétique humaine, Université de Franche-Comté, Centre Hospitalier Universitaire de Besancon, Besancon, France.; Venkateswaran S; The University of Newcastle, Callaghan, New South Wales, Australia.; Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Lombardia, Italy.; Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Garavelli L; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy livia.garavelli@ausl.re.it.; Bayat A; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Syddanmark, Denmark.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Mejdahl Nielsen M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Electronic address: malene.mejdahl.nielsen.01@regionh.dk.; Petersen ET; Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Amager and Hvidovre, Hvidovre, Denmark; Section for Magnetic Resonance, Department of Health Technology, Technical University of Denmark, Kgs. Lyngby, Denmark.; Fenger CD; Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Denmark; Amplexa Genetics, Odense, Denmark.; Ørngreen MC; Center for Inherited Metabolic Diseases, Departments of Pediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN) - Project ID No 739543, Denmark.; Siebner HR; Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Amager and Hvidovre, Hvidovre, Denmark; Department of Neurology, Copenhagen University Hospital Bispebjerg and Frederiksberg, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Boer VO; Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Amager and Hvidovre, Hvidovre, Denmark.; Považan M; Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Amager and Hvidovre, Hvidovre, Denmark.; Lund A; Center for Inherited Metabolic Diseases, Departments of Pediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN) - Project ID No 739543, Denmark.; Grønborg SW; Center for Inherited Metabolic Diseases, Departments of Pediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN) - Project ID No 739543, Denmark.; Hammer TB; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Denmark.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE