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353 |
Coughlin C.R., II, Tseng L.A., Abdenur J.E., Ashmore C., Boemer F., Bok L.A., Boyer M., Buhas D., Clayton P.T., Das A., Dekker H., Evangeliou A., Feillet F., Footitt E.J., Gospe S.M., Jr., Hartmann H., Kara M., Kristensen E., Lee J., Lilje R., Longo N., Lunsing R.J., Mills P., Papadopoulou M.T., Pearl P.L., Piazzon F., Plecko B., Saini A.G., Santra S., Sjarif D.R., Stockler-Ipsiroglu S., Striano P., Van Hove J.L.K., Verhoeven-Duif N.M., Wijburg F.A., Zuberi S.M., van Karnebeek C.D.M. |
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency |
Journal of Inherited Metabolic Disease |
1 |
Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, United States; Department of Pediatrics Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, Netherlands; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, United States; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom; Department of Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, Liège, Belgium; Department of Pediatrics and Neonatology, Máxima Medical Center, Veldhoven, Netherlands; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, Québec, Canada; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Clinic for Paediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany; VKS: Dutch Patient Organization for Metabolic Diseases, Zwolle, Netherlands; Division of Child Neurology and Inherited Metabolic Disorders, 4th Department of Pediatrics, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece; Reference Center for Inborn Errors of Metabolism, Pediatric Unit, University Hospital of Nancy, Nancy, France; INSERM UMR S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France; Department of Metabolic Paediatrics, Great Ormond Street Hospital, London, United Kingdom; Division of Pediatric Neurology, Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, United States; Department of Pediatrics, Duke University, Durham, NC, United States; Department of Pediatrics, University of Tripoli, Tripoli, Libyan Arab Jamahiriya; National Management of Newborn Screening and Advanced Laboratory Diagnostics in Inborn Errors of Metabolism, Department of Children and Adolescent Medicine, Oslo University Hospital, Oslo, Norway; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, VIC, Australia; Department of Children and Adolescent Medicine, Oslo University Hospital, Oslo, Norway; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, United States; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States; Neurometabolic Clinic, Children's Institute, University of Sao Paulo, Brazil; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India; Department of Child Health, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Division of Biochemical Genetics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada; Pediatric Neurology and Muscular Diseases Unit, IRCCS “G. Gaslini” Institute, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genoa, Italy; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands; Paediatric Neurosciences Research Group, Royal Hospital for Children & School of Medicine, University of Glasgow, Glasgow, United Kingdom; Department of Pediatrics, Amalia Children's Hospital, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, Netherlands |
Q2 |
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