부산대학교 도서관

Hikmat O; Department of Paediatrics and Adolescent Medicine, Haukeland University Hospital, Bergen, Norway. omar.hikmat@uib.no.; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway. omar.hikmat@uib.no.; European Reference Network for Hereditary Metabolic Disorders, Oslo, Norway. omar.hikmat@uib.no.; Naess K; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Neuropediatrics, Astrid Lindgren Childrens Hospital, Karolinska University Hospital, Stockholm, Sweden.; Engvall M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Klingenberg C; Department of Paediatric and Adolescent Medicine, University Hospital of North Norway, Tromso, Norway.; Paediatric Research Group, Department of Clinical Medicine, UiT, The Arctic University of Norway, Tromso, Norway.; Rasmussen M; Division of Paediatric and Adolescent Medicine, Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway.; Department of Neurology, Unit for Congenital and Hereditary Neuromuscular Disorders, Oslo University Hospital, Oslo, Norway.; Brodtkorb E; Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway.; Department of Neurology and Clinical Neurophysiology, St. Olav University Hospital, Trondheim, Norway.; Ostergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; de Coo I; Faculty of Health, Medicine and Life Sciences, Department of Toxicology, University of Maastricht, Maastricht, The Netherlands.; Pias-Peleteiro L; Neurometabolic Disorders Unit, Department of Child Neurology/ Department of Genetics and Molecular Medicine, Sant Joan de Déu Children´S Hospital, Barcelona, Spain.; Isohanni P; Department of Pediatric Neurology, Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; European Reference Network for Hereditary Metabolic Disorders, Helsinki, Finland.; Uusimaa J; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland.; Department of Pediatric Neurology, Clinic for Children and Adolescents and Medical Research Center, Oulu University Hospital, Oulu, Finland.; Majamaa K; Research Unit of Clinical Medicine, Neurology, and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.; Neurocenter, Oulu University Hospital, Oulu, Finland.; Kärppä M; Research Unit of Clinical Medicine, Neurology, and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.; Neurocenter, Oulu University Hospital, Oulu, Finland.; Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Tangeraas T; European Reference Network for Hereditary Metabolic Disorders, Oslo, Norway.; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.; Berland S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Harrison E; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Biggs H; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Darin N; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.; Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.; Metabolic Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.; European Reference Network for Hereditary Metabolic Disorders, London, UK.; Bindoff LA; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.; European Reference Network for Hereditary Metabolic Disorders, Oslo, Norway.; Department of Neurology, Haukeland University Hospital, 5021, Bergen, Norway.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Savvidou A; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Department of Pediatrics, Queen Silvia Children's Hospital, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.; Sofou K; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Department of Pediatrics, Queen Silvia Children's Hospital, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.; Eklund EA; Section of Pediatrics, Department of Clinical Sciences, Lund University, Lund, Sweden.; Aronsson J; Department of Pediatrics, Ryhov Hospital, Jönköping, Sweden.; Darin N; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Department of Pediatrics, Queen Silvia Children's Hospital, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.

Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

Westerlund E; Mitochondrial Medicine, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.; Emergency Department, Kungälv Hospital, Kungälv, Sweden.; Marelsson SE; Mitochondrial Medicine, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.; Children's Medical Center, Landspitali-The National University Hospital of Iceland, Reykjavík, Iceland.; Karlsson M; Department of Neurosurgery, Rigshospitalet, Copenhagen, Denmark.; Sjövall F; Mitochondrial Medicine, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.; Department of Intensive- and Perioperative Care, Skåne University Hospital, Malmö, Sweden.; Chamkha I; Mitochondrial Medicine, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.; Åsander Frostner E; Mitochondrial Medicine, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.; Lundgren J; Department of Pediatrics, Skåne University Hospital, Lund University, Lund, Sweden.; Fellman V; Department of Pediatrics, Skåne University Hospital, Lund University, Lund, Sweden.; Eklund EA; Department of Pediatrics, Skåne University Hospital, Lund University, Lund, Sweden.; Steding-Ehrenborg K; Clinical Physiology, Department of Clinical Sciences Lund, Skåne University Hospital, Lund University, Lund, Sweden.; Darin N; Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.; Paul G; Translational Neurology Group and Wallenberg Center for Molecular Medicine, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.; Hansson MJ; Mitochondrial Medicine, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.; Ehinger JK; Mitochondrial Medicine, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.; Department of Clinical Sciences Lund, Otorhinolaryngology, Head and Neck Surgery, Skåne University Hospital, Lund University, Lund, Sweden.; Elmér E; Mitochondrial Medicine, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.

Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101672560 Publication Model: eCollection Cited Medium: Print ISSN: 2405-8440 (Print) Linking ISSN: 24058440 NLM ISO Abbreviation: Heliyon Subsets: PubMed not MEDLINE

Hedberg-Oldfors C; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden. carola.oldfors@gu.se.; Mitra S; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.; Wallenberg Centre for Molecular and Translational Medicine, University of Gothenburg, Gothenburg, Sweden.; Molinaro A; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.; Visuttijai K; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.; Fogelstrand L; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden.; Oldfors A; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.; Sterky FH; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.; Wallenberg Centre for Molecular and Translational Medicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden.; Darin N; Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, Gothenburg, Sweden.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Vogel GF; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria. Electronic address: georg.vogel@i-med.ac.at.; Mozer-Glassberg Y; Institute for Gastroenterology, Nutrition and Liver diseases, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel.; Landau YE; Metabolism Service, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Schlieben LD; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany.; Prokisch H; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany.; Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.; Mayr JA; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.; Brennenstuhl H; Division of Neuropaediatrics and Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schröter J; Division of Paediatric Epileptology, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Pechlaner A; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.; Baker JJ; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Barcia G; Department of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Hospital, Université Paris Cité, Paris, France; Institut Imagine, INSERM UMR 1163, Paris, France.; Baric I; Department of Pediatrics, School of Medicine, University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia.; Braverman N; Division of Medical Genetics, Department of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada.; Burnyte B; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.; Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Coman D; Faculty of Medicine, Queensland Children's Hospital, University of Queensland, Herston, Brisbane, Queensland, Australia.; Das AM; Department of Paediatrics, Paediatric Metabolic Medicine, Hannover Medical School, Hannover, Germany.; Darin N; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden.; Della Marina A; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- und Behavioral Sciences, University Duisburg-Essen, Essen, Germany.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University Dusseldorf, Dusseldorf, Germany.; Eklund EA; Section for Pediatrics, Department of Clinical Sciences, Lund University, Lund, Sweden.; Ersoy M; Department of Pediatrics, Division of Pediatric Metabolism, University of Health Sciences, Bakırkoy Dr. Sadi Konuk Training and Research, Istanbul, Turkey.; Fang W; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.; Gaignard P; Department of Biochemistry, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, Paris, France.; Ganetzky RD; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.; Gonzales E; Pediatric Hepatology and Pediatric Liver Transplantation Unit, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, Paris, France; Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, Paris, France.; Howard C; Children's Health Ireland, Temple Street Hospital, Dublin, Ireland.; Hughes J; Children's Health Ireland, Temple Street Hospital, Dublin, Ireland.; Konstantopoulou V; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Kose M; Division of Inborn Errors of Metabolism, Department of Pediatrics, İzmir Katip Çelebi University, Izmir, Turkey; Division of Genetics, Department of Pediatrics, Ege University, Izmir, Turkey.; Kerr M; Discovery DNA, Metabolics and Genetics in Canada (M.A.G.I.C.) Clinic Ltd, Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Khan A; Discovery DNA, Metabolics and Genetics in Canada (M.A.G.I.C.) Clinic Ltd, Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Lenz D; Division of Neuropaediatrics and Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Margolis MG; Institute of Endocrinology and Diabetes, National Center of Childhood Diabetes Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel.; Morrison K; Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Müller T; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Murayama K; Department of Metabolism, Chiba Children's Hospital, Midori-ku, Chiba, Japan.; Nicastro E; Pediatric Hepatology, Gastroenterology and Transplantation, Hospital Papa Giovanni XXIII, Bergamo, Italy.; Pennisi A; Department of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Hospital, Université Paris Cité, Paris, France; Institut Imagine, INSERM UMR 1163, Paris, France.; Peters H; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia.; Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Rötig A; Institut Imagine, INSERM UMR 1163, Paris, France.; Santer R; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany.; Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Shatin, Hong Kong SAR.; Schiff M; Department of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Hospital, Université Paris Cité, Paris, France; Institut Imagine, INSERM UMR 1163, Paris, France; Reference Center of Inherited Metabolic Disorders, Necker Hospital, Université Paris Cité, Paris, France.; Shagrani M; Department of Liver & Small Bowel Health Centre King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Sharrard M; Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Staufner C; Division of Neuropaediatrics and Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Storey I; University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom.; Stormon M; Department of Gastroenterology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Thorburn DR; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.; Teles EL; Inherited Metabolic Diseases Reference Centre, São João Hospital University Centre, EPE, Porto, Portugal.; Wang JS; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.; Weghuber D; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.; Wortmann S; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Geoerger B; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France. birgit.geoerger@gustaveroussy.fr.; INSERM U1015, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France. birgit.geoerger@gustaveroussy.fr.; Schiff M; Reference Center for Inborn Errors of Metabolism, Necker University Hospital, APHP and University of Paris Cité, Paris, France.; INSERM UMRS 1163, Institut Imagine, Paris, France.; Penard-Lacronique V; INSERM 1170, Université Paris-Saclay, Equipe Labellisée Ligue Nationale Contre le Cancer, member of OPALE Carnot Institute The Organization for Partnerships in Leukemia, Villejuif, France.; Darin N; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg and Queen Silvia Children's Hospital at Sahlgrenska University Hospital, Gothenburg, Sweden.; Saad SM; Department of Cardiology, Clinique du Diaconat, Mulhouse, France.; Duchon C; Reference Center for Inborn Errors of Metabolism, Necker University Hospital, APHP and University of Paris Cité, Paris, France.; Lamazière A; Clinical Metabolomic Department, Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, Paris, France.; Desmons A; Clinical Metabolomic Department, Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, Paris, France.; Pontoizeau C; Reference Center for Inborn Errors of Metabolism, Necker University Hospital, APHP and University of Paris Cité, Paris, France.; INSERM UMRS 1163, Institut Imagine, Paris, France.; Metabolomics Unit of the Department of Biology, Physiology and Genetics, Necker University Hospital, APHP and University of Paris Cité, Paris, France.; Berlanga P; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.; Ducassou S; Department of Pediatric Hemato-Oncology, CHU Bordeaux, Bordeaux, France.; Yen K; Agios Pharmaceuticals, Cambridge, MA, USA.; Auron Therapeutics, Cambridge, MA, USA.; Su M; Agios Pharmaceuticals, Cambridge, MA, USA.; Auron Therapeutics, Cambridge, MA, USA.; Schenkein D; Agios Pharmaceuticals, Cambridge, MA, USA.; GV, Cambridge, MA, USA.; Ottolenghi C; Reference Center for Inborn Errors of Metabolism, Necker University Hospital, APHP and University of Paris Cité, Paris, France.; INSERM UMRS 1163, Institut Imagine, Paris, France.; Metabolomics Unit of the Department of Biology, Physiology and Genetics, Necker University Hospital, APHP and University of Paris Cité, Paris, France.; De Botton S; INSERM 1170, Université Paris-Saclay, Equipe Labellisée Ligue Nationale Contre le Cancer, member of OPALE Carnot Institute The Organization for Partnerships in Leukemia, Villejuif, France.; Department of Hematology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.

Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Björkman K; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden kristoffer.bjorkman@gu.se.; The Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.; Vissing J; Copenhagen Neuromuscular Centre, Rigshospitalet, Kobenhavn, Denmark.; Østergaard E; Department of Clinical Genetics, Rigshospitalet, Kobenhavn, Denmark.; Department of Clinical Medicine, University of Copenhagen, Kobenhavn, Denmark.; Bindoff LA; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.; Neuro-SysMed, Department of Neurology, Haukeland University Hospital, Bergen, Norway.; de Coo IFM; Department of Toxicogenomics, Unit Clinical Genomics, Maastricht University, Maastricht, The Netherlands.; Maastricht University School for Mental Health and Neuroscience, Maastricht, The Netherlands.; Engvall M; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.; Hikmat O; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.; Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.; Isohanni P; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; University of Helsinki Children's Hospital, Helsinki, Finland.; Kollberg G; Department of Clinical Chemistry, University of Gothenburg, Gothenburg, Sweden.; Lindberg C; Department of Neurology, Neuromuscular Center, Sahlgrenska University Hospital, Gothenburg, Sweden.; Majamaa K; Medical Research Center, Oulu University Faculty of Medicine, Oulu, Finland.; Medical Research Center, Oulu University Hospital, Oulu, Finland.; Naess K; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden.; Uusimaa J; PEDEGO Research Unit, Oulu University Faculty of Medicine, Oulu, Finland.; Clinic for Children and Adolescents and Medical Research Center, Oulu University Hospital, Oulu, Finland.; Tulinius M; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; The Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.; Darin N; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; The Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.

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

Krantz M; Department of Psychology, University of Gothenburg, Gothenburg, Sweden.; Malm E; Department of Psychology, University of Gothenburg, Gothenburg, Sweden.; Darin N; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden.; Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.; Sofou K; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden.; Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.; Savvidou A; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden.; Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.; Reilly C; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden.; Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.; Boström P; Department of Psychology, University of Gothenburg, Gothenburg, Sweden.

Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7602632 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2214 (Electronic) Linking ISSN: 03051862 NLM ISO Abbreviation: Child Care Health Dev Subsets: MEDLINE

Schwantje M; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Ebberink MS; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Doolaard M; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Ruiter JPN; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Fuchs SA; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Darin N; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.; Hedberg-Oldfors C; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.; Régal L; Pediatric Neurology and Metabolism Department of Pediatrics, UZ Brussel, Jette, Belgium.; Donker Kaat L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Huidekoper HH; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Olpin S; Department of Clinical Chemistry, Sheffield Children's Hospital, Sheffield, UK.; Cole D; Wales Newborn Screening Laboratory, Department of Medical Biochemistry, Immunology and Toxicology, University Hospital of Wales, Cardiff, UK.; School of Medicine, Cardiff University, Cardiff, UK.; Moat SJ; Department of Clinical Chemistry, Sheffield Children's Hospital, Sheffield, UK.; Wales Newborn Screening Laboratory, Department of Medical Biochemistry, Immunology and Toxicology, University Hospital of Wales, Cardiff, UK.; Visser G; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Roos S; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.; Hedberg-Oldfors C; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.; Visuttijai K; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.; Stein M; Department of Pediatrics, Helsingborg Hospital, Helsingborg, Sweden.; Kollberg G; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.; Elíasdóttir Ó; Department of Neurology, Neuromuscular Center, Sahlgrenska University Hospital, Gothenburg, Sweden.; Lindberg C; Department of Neurology, Neuromuscular Center, Sahlgrenska University Hospital, Gothenburg, Sweden.; Darin N; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden.; Oldfors A; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

Publisher: International Society of Neuropathology Country of Publication: Switzerland NLM ID: 9216781 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1750-3639 (Electronic) Linking ISSN: 10156305 NLM ISO Abbreviation: Brain Pathol Subsets: MEDLINE