المؤلفون: Tseng LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; On behalf of United for Metabolic Diseases, the Netherlands., Abdenur JE; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, USA., Andrews A; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA., Aziz VG; Seattle Children's Research Institute, Seattle, WA, USA., Bok LA; Department of Pediatrics and Neonatology, Máxima Medical Center, Veldhoven, the Netherlands., Boyer M; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, USA., Buhas D; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada., Hartmann H; Clinic for Pediatric Kidney-, Liver-, and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Footitt EJ; Department of Metabolic Paediatrics, Great Ormond Street Hospital, London, UK., Grønborg S; Centre Inherited Metabolic Disease, Department of Paediatrics and Adolescent Medicine and Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Janssen MCH; Department of Internal Medicine, Radboud Centre for Mitochondrial and Metabolic Medicine, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands., Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA., Lunsing RJ; Department of Paediatric Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., MacKenzie AE; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Wijburg FA; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Gospe SM Jr; Seattle Children's Research Institute, Seattle, WA, USA; Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, USA; Department of Pediatrics, Duke University, Durham, NC, USA., Coughlin CR 2nd; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. Electronic address: curtis.coughlin@cuanschutz.edu., van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; On behalf of United for Metabolic Diseases, the Netherlands; Department of Human Genetics, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands. Electronic address: c.d.vankarnebeek@amsterdamumc.nl.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2022 Apr; Vol. 135 (4), pp. 350-356. Date of Electronic Publication: 2022 Feb 17.

نوع المنشور: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Lysine* , Pyridoxine*/therapeutic use, Activities of Daily Living ; Cohort Studies ; Epilepsy ; Humans ; Retrospective Studies

SCR Disease Name: Pyridoxine-dependent epilepsy

المؤلفون: Jung S; Seattle Children's Research Institute, Seattle, WA, USA., Tran NT, Gospe SM Jr, Hahn SH

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2013 Nov; Vol. 110 (3), pp. 237-40. Date of Electronic Publication: 2013 Jul 26.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Chromatography, Liquid* , Tandem Mass Spectrometry*, Epilepsy/*blood , Epilepsy/*diagnosis, 2-Aminoadipic Acid/analogs & derivatives ; 2-Aminoadipic Acid/blood ; Biomarkers/blood ; Epilepsy/genetics ; Female ; Humans ; Infant, Newborn ; Male ; Neonatal Screening ; Retrospective Studies

SCR Disease Name: Pyridoxine-dependent epilepsy

المؤلفون: van Karnebeek CD; Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada., Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe SM Jr, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2012 Nov; Vol. 107 (3), pp. 335-44. Date of Electronic Publication: 2012 Sep 10.

نوع المنشور: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Aldehyde Dehydrogenase/*genetics , Epilepsy/*diet therapy , Lysine/*administration & dosage, 2-Aminoadipic Acid/analogs & derivatives ; 2-Aminoadipic Acid/blood ; 2-Aminoadipic Acid/cerebrospinal fluid ; 2-Aminoadipic Acid/urine ; Aldehyde Dehydrogenase/deficiency ; Child ; Child, Preschool ; Cognition ; Diet ; Epilepsy/drug therapy ; Epilepsy/genetics ; Epilepsy/pathology ; Female ; Humans ; Infant ; Longitudinal Studies ; Male ; Pipecolic Acids/blood ; Pipecolic Acids/cerebrospinal fluid ; Pipecolic Acids/urine ; Pyridoxine/therapeutic use

SCR Disease Name: Pyridoxine-dependent epilepsy

المؤلفون: Stockler S; Division of Biochemical Diseases, British Columbia Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver BC, Canada V6H 3V4. sstockler@cw.bc.ca, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2011 Sep-Oct; Vol. 104 (1-2), pp. 48-60. Date of Electronic Publication: 2011 May 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: 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

مواضيع طبية MeSH: Practice Guidelines as Topic*, Aldehyde Dehydrogenase/*deficiency , Epilepsy/*diagnosis , Epilepsy/*therapy, Aldehyde Dehydrogenase/genetics ; Aldehyde Dehydrogenase/metabolism ; Biomarkers/metabolism ; Epilepsy/genetics ; Epilepsy/physiopathology ; Follow-Up Studies ; Humans ; Vitamin B 6/therapeutic use

SCR Disease Name: Pyridoxine-dependent epilepsy