부산대학교 도서관

Bams-Mengerink AM; Majoie CB; Duran M; Wanders RJ; Van Hove J; Scheurer CD; Barth PG; Poll-The BT

Neurology; 2006 Mar 28, Vol. 66 Issue 6, p798-803, 6p

Ferdinandusse S; Denis S; Mooyer PA; Dekker C; Duran M; Soorani-Lunsing RJ; Boltshauser E; Macaya A; Gärtner J; Majoie CB; Barth PG; Wanders RJ; Poll-The BT

Annals of Neurology; Jan2006, Vol. 59 Issue 1, p92-104, 13p

Fallatah W; Department of Human Genetics, McGill University, Research Institute of the McGill University Health Centre, Montreal, Québec, Canada.; Department of Medical Genetics, King Abdul-Aziz University, Jeddah, Saudi Arabia.; Schouten M; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC - location AMC, University of Amsterdam, Amsterdam, The Netherlands.; Yergeau C; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Québec, Canada.; Di Pietro E; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Québec, Canada.; Engelen M; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC - location AMC, University of Amsterdam, Amsterdam, The Netherlands.; Waterham HR; Laboratory Genetic Metabolic Diseases, Amsterdam UMC - location AMC, University of Amsterdam, Amsterdam, The Netherlands.; Poll-The BT; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC - location AMC, University of Amsterdam, Amsterdam, The Netherlands.; Braverman N; Department of Human Genetics and Pediatrics, Child Health and Human Development Program, McGill University, Research Institute of the McGill University Health Centre, Montreal, Québec, Canada.

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

van Dijk T; Department of Clinical Genetics, Academic Medical Center, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Barth P; Department of Pediatric Neurology, Academic Medical Center, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Reneman L; Department of Radiology and Nuclear Medicine, Academic Medical Center, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Poll-The BT; Department of Pediatric Neurology, Academic Medical Center, Amsterdam University Medical Center, Amsterdam, The Netherlands.

Publisher: Hippokrates Verlag Country of Publication: Germany NLM ID: 8101187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-1899 (Electronic) Linking ISSN: 0174304X NLM ISO Abbreviation: Neuropediatrics Subsets: MEDLINE

Pelletier F; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.; Division of Child Neurology, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montreal, QC, Canada.; Perrier S; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Cayami FK; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Center of Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.; Mirchi A; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.; Saikali S; Department of Pathology, Centre Hospitalier Universitaire de Québec, Québec City, QC, Canada.; Tran LT; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Ulrick N; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Guerrero K; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Rampakakis E; Department of Pediatrics, McGill University, Montreal, QC, Canada.; van Spaendonk RML; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Naidu S; Department of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA.; Pohl D; Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.; Gibson WT; Department of Medical Genetics, University of British Columbia, BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Demos M; Division of Neurology, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada.; Goizet C; Centre de Référence Neurogénétique, Service de Génétique Médicale, Bordeaux University Hospital, and Laboratoire MRGM, INSERM U1211, Université de Bordeaux, Bordeaux, France.; Tejera-Martin I; Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain.; Potic A; Department of Neurology, Clinic for Child Neurology and Psychiatry, Medical Faculty University of Belgrade, Belgrade, Serbia.; Fogel BL; Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Brais B; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Montreal Neurological Institute, Montreal, QC, Canada.; Sylvain M; Centre Mère Enfant, CHU de Québec, Québec City, QC, Canada.; Sébire G; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Pediatrics, Université de Sherbrooke, Sherbrooke, QC, Canada.; Lourenço CM; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, SP, Brazil.; Bonkowsky JL; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Catsman-Berrevoets C; Department of Paediatric Neurology, Erasmus University Hospital - Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands.; Pinto PS; Neuroradiology Department, Centro Hospitalar do Porto, Porto, Portugal.; Tirupathi S; Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK.; Strømme P; Division of Pediatrics and Adolescent Medicine, Oslo University Hospital, Ullevål, 0450 Oslo, and University of Oslo, Oslo, Norway.; de Grauw T; Department of Pediatrics, Emory School of Medicine, Atlanta, GA, USA.; Gieruszczak-Bialek D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland.; Krägeloh-Mann I; Department of Child Neurology, University Children's Hospital Tübingen, Tübingen, Germany.; Mierzewska H; Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland.; Philippi H; Center of Developmental Neurology (SPZ Frankfurt Mitte), Frankfurt, Germany.; Rankin J; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Atik T; Division of Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey.; Banwell B; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Benko WS; Division of Pediatric Neurology, Department of Neurology, UC Davis Health System, Sacramento, CA, USA.; Blaschek A; Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.; Bley A; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Boltshauser E; Department of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.; Bratkovic D; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Brozova K; Department of Child Neurology, Thomayers Hospital, Prague, Czech Republic.; Cimas I; Department of Neurology, Povisa Hospital, Vigo, Spain.; Clough C; Department of Neurology, King's College Hospital, London, UK.; Corenblum B; Division of Endocrinology & Metabolism, Department of Medicine, University of Calgary, Calgary, AB, Canada.; Dinopoulos A; Third Department of Pediatrics, National and Kapodistrian University of Athens, 'Attikon' Hospital, Athens, Greece.; Dolan G; Bristow Pediatrics, Bristow, VA, USA.; Faletra F; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.; Fernandez R; Pediatric Neurology Associates, Tampa, FL, USA.; Fletcher J; Genetics and Molecular Pathology, Women's and Children's Hospital, Adelaide, South Australia, Australia.; Garcia Garcia ME; Department of Neurology, The Royal London Hospital, London, UK.; Gasparini P; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, 34100 Trieste, and University of Trieste, Trieste, Italy.; Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University Leipzig, Leipzig, Germany.; Gonzalez Moron D; Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia, ADC, Buenos Aires, Argentina.; Hamati A; Department of Child Neurology, Indiana University, Indianapolis, IN, USA.; Harting I; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany.; Hertzberg C; Department of Child Neurology, Vivantes Klinikum, Berlin, Germany.; Hill A; Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.; Hobson GM; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.; Kauffman M; Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia and CONICET, ADC, Buenos Aires, Argentina.; Kirwin SM; Molecular Diagnostics Laboratory, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Kluger G; PMU Salzburg, 5020 Salzburg, Austria; Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany.; Kolditz P; Department of Child Neurology, Kantonsspital Luzern, Luzern, Switzerland.; Kotzaeridou U; Department of Child Neurology, University Children's Hospital Heidelberg, Heidelberg, Germany.; La Piana R; Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.; Liston E; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; McClintock W; Pediatric Specialists of Virginia, Fairfax, VA, USA.; Department of Neurology, Children's National Medical Center, Washington, DC, USA.; McEntagart M; South West Thames Regional Genetics Service, St. George's Hospital, London, UK.; McKenzie F; Genetic Services of Western Australia, Subiaco, WA, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.; Melançon S; Department of Medical Genetics, McGill University Health Centre, Montreal Children's Hospital, Montreal, QC, Canada.; Misbahuddin A; Essex Centre for Neurological Sciences, Queen's Hospital, Romford, UK.; Suri M; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Monton FI; Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain.; Moutton S; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; Murphy RPJ; Department of Neurology, Tallaght University Hospital, Tallaght, Ireland.; Nickel M; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Onay H; Department of Medical Genetics, Ege University, Izmir, Turkey.; Orcesi S; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.; Özkınay F; Department of Pediatrics, Subdivision of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Patzer S; Children's Hospital St. Elisabeth and St. Barbara, Halle (Saale), Germany.; Pedro H; Department of Pediatrics, The Joseph M. Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, NJ, USA.; Pekic S; Clinic for Endocrinology, Diabetes and Diseases of Metabolism, University Clinical Center, Belgrade & School of Medicine, University of Belgrade, Belgrade, Serbia.; Pineda Marfa M; Hospital Sant Joan de Deu, Passeig de Sant Joan de Deu nº2, Barcelona, Spain.; Pizzino A; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Genetics, MetroHealth Hospital, Cleveland, OH, USA.; Plecko B; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.; Poll-The BT; Department of Pediatric Neurology, Emma Children's Hospital, 1105 Amsterdam, The Netherlands.; Popovic V; Medical Faculty, University of Belgrade, Belgrade, Serbia.; Rating D; Department of Paediatric Neurology, University Children's Hospital, Heidelberg, Germany.; Rioux MF; Centre Hospitalier Universitaire de Sherbrooke - Hôpital Fleurimont, Sherbrooke, QC, Canada.; Rodriguez Espinosa N; Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain.; Ronan A; Hunter New England LHD, University of Newcastle, NSW, Australia.; Ostergaard JR; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.; Rossignol E; Departments of Neurosciences and Pediatrics, CHU-Sainte-Justine, Université de Montréal, Montreal, QC, Canada.; Sanchez-Carpintero R; Pediatric Neurology Unit, Department of Pediatrics, Clinica Universidad de Navarra, Pamplona, Spain.; Schossig A; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Senbil N; Department of Child Neurology, Kırıkkale University Medical Faculty, Kırıkkale, Turkey.; Sønderberg Roos LK; Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.; Stevens CA; Department of Pediatrics, Division of Medical Genetics, University of Tennessee College of Medicine, Chattanooga, TN, USA.; Synofzik M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and Centre of Neurology, German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.; Sztriha L; Department of Paediatrics, University of Szeged, Szeged, Hungary.; Tibussek D; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, 40225 Düsseldorf, Germany.; Timmann D; Department of Neurology, Essen University Hospital, University of Duisburg-Essen, Essen, Germany.; Tonduti D; Child Neurology Unit, V. Buzzi Children's Hospital, Milano, Italy.; van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.; Vázquez-López M; Sección Neuropediatría. Hospital Maternoinfantil Gregorio Marañón, Madrid, Spain.; Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Wasling P; Department of Neuroscience and Rehabilitation, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Wassmer E; Paediatric Neurology, Birmingham Children's Hospital, Birmingham, UK.; Webster RI; T. Y. Nelson Department of Neurology and Neurosurgery and the Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Wiegand G; Department of Pediatric Neurology, University Hospital Kiel, Germany.; Neuropediatrics Section of the Department of Pediatrics, Asklepios Clinic Hamburg Nord-Heidberg, Hamburg, Germany.; Yoon G; Division of Clinical and Metabolic Genetics, Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Rotteveel J; Emma Children's Hospital, Amsterdam UMC, Pediatric Endocrinology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Schiffmann R; Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA.; van der Knaap MS; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands.; Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Martos-Moreno GÁ; Department of Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain.; Department of Pediatrics, Universidad Autónoma de Madrid, 28049 Madrid, Spain.; CIBER de Fisiopatologia de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.; Polychronakos C; Division of Endocrinology, Montreal Children's Hospital and the Endocrine Genetics Lab, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Bernard G; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

van Ballegoij WJC; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1100DD, Amsterdam, The Netherlands. w.j.vanballegoij@amsterdamumc.nl.; Department of Neurology, OLVG Hospital, Amsterdam, The Netherlands. w.j.vanballegoij@amsterdamumc.nl.; Kuijpers SC; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1100DD, Amsterdam, The Netherlands.; Huffnagel IC; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1100DD, Amsterdam, The Netherlands.; Weinstein HC; Department of Neurology, OLVG Hospital, Amsterdam, The Netherlands.; Poll-The BT; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1100DD, Amsterdam, The Netherlands.; Engelen M; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1100DD, Amsterdam, The Netherlands.; Bennebroek CAM; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Verbraak FD; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: PubMed not MEDLINE; MEDLINE

Hoytema van Konijnenburg EMM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, Meibergdreef 9 1105, AZ, Amsterdam, the Netherlands.; Luirink IK; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, Meibergdreef 9 1105, AZ, Amsterdam, the Netherlands.; Schagen SEE; Department of Pediatrics, OLVG Hospital, Jan Tooropstraat 164 1061 AE, Amsterdam, the Netherlands.; Engelen M; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Meibergdreef 9 1105, AZ, Amsterdam, the Netherlands.; Berendse K; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, Meibergdreef 9 1105, AZ, Amsterdam, the Netherlands.; Poll-The BT; Department of Pediatrics, OLVG Hospital, Jan Tooropstraat 164 1061 AE, Amsterdam, the Netherlands.; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Meibergdreef 9 1105, AZ, Amsterdam, the Netherlands.; Chegary M; Department of Pediatrics, OLVG Hospital, Jan Tooropstraat 164 1061 AE, Amsterdam, the Netherlands.

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

Duker AL; Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.; Niiler T; Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.; Kinderman D; Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.; Schouten M; Amsterdam University Medical Center, Amsterdam, The Netherlands.; Poll-The BT; Amsterdam University Medical Center, Amsterdam, The Netherlands.; Braverman N; McGill University, Montreal, QC, Canada.; Bober MB; Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

van Ballegoij WJC; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1100DD, Amsterdam, The Netherlands. w.j.vanballegoij@amsterdamumc.nl.; Department of Neurology, OLVG Hospital, Amsterdam, The Netherlands. w.j.vanballegoij@amsterdamumc.nl.; Kuijpers SC; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1100DD, Amsterdam, The Netherlands.; Huffnagel IC; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1100DD, Amsterdam, The Netherlands.; Weinstein HC; Department of Neurology, OLVG Hospital, Amsterdam, The Netherlands.; Poll-The BT; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1100DD, Amsterdam, The Netherlands.; Engelen M; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1100DD, Amsterdam, The Netherlands.; Bennebroek CAM; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Verbraak FD; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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

Berendse K; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology & Metabolism, the Netherlands; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Paediatric Neurology, the Netherlands.; Boek M; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology & Metabolism, the Netherlands.; Gijbels M; Department of Molecular Genetics, Cardiovascular Research Institute Maastricht, University of Maastricht, the Netherlands.; Van der Wel NN; Amsterdam UMC, University of Amsterdam, Pathology, the Netherlands.; Klouwer FC; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology & Metabolism, the Netherlands; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Paediatric Neurology, the Netherlands.; van den Bergh-Weerman MA; Amsterdam UMC, University of Amsterdam, Pathology, the Netherlands.; Shinde AB; Department of Pharmaceutical and Pharmacological Sciences, Laboratory of Cell Metabolism, University of Leuven, Belgium.; Ofman R; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology & Metabolism, the Netherlands.; Poll-The BT; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Paediatric Neurology, the Netherlands.; Houten SM; Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, USA.; Baes M; Department of Pharmaceutical and Pharmacological Sciences, Laboratory of Cell Metabolism, University of Leuven, Belgium.; Wanders RJA; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology & Metabolism, the Netherlands.; Waterham HR; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology & Metabolism, the Netherlands. Electronic address: h.r.waterham@amc.uva.nl.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-260X (Electronic) Linking ISSN: 09254439 NLM ISO Abbreviation: Biochim Biophys Acta Mol Basis Dis Subsets: MEDLINE