Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.

[1]  R. Hevner,et al.  Glial localization of antiquitin: Implications for pyridoxine‐dependent epilepsy , 2014, Annals of neurology.

[2]  S. Gospe,et al.  Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. , 2013, Molecular genetics and metabolism.

[3]  E. Donner,et al.  Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations. , 2013, Molecular genetics and metabolism.

[4]  K. Mills,et al.  Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method , 2013, Journal of Inherited Metabolic Disease.

[5]  J. H. van der Lee,et al.  Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. , 2012, Molecular genetics and metabolism.

[6]  S. Gospe Natural history of pyridoxine‐dependent epilepsy: tools for prognostication , 2012, Developmental medicine and child neurology.

[7]  C. Greenberg,et al.  Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience. , 2012, Molecular genetics and metabolism.

[8]  S. Houterman,et al.  Long‐term outcome in pyridoxine‐dependent epilepsy , 2012, Developmental medicine and child neurology.

[9]  M. Doğan,et al.  A 9-year follow-up of a girl with pyridoxine (vitamin B6)-dependent seizures: magnetic resonance spectroscopy findings. , 2012, European review for medical and pharmacological sciences.

[10]  P. Waters,et al.  Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency , 2012, Journal of Inherited Metabolic Disease.

[11]  S. Stockler,et al.  Cultural aspects in the management of inborn errors of metabolism , 2012, Journal of Inherited Metabolic Disease.

[12]  C. V. van Karnebeek,et al.  Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. , 2011, Molecular genetics and metabolism.

[13]  A. Moser,et al.  Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx. , 2011, Molecular genetics and metabolism.

[14]  M. Durán,et al.  Diagnosis and management of glutaric aciduria type I – revised recommendations , 2011, Journal of Inherited Metabolic Disease.

[15]  I. Harting,et al.  Use of guidelines improves the neurological outcome in glutaric aciduria type I , 2010, Annals of neurology.

[16]  N. Marlow,et al.  Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) , 2010, Brain : a journal of neurology.

[17]  P. Acosta Nutrition Management of Patients With Inherited Metabolic Disorders , 2009 .

[18]  S. Gospe,et al.  Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry , 2009, European Journal of Pediatrics.

[19]  P. M. S. M. F. Frcpch Pyridoxine-dependent and pyridoxine-responsive seizures , 2007 .

[20]  A. Ribes,et al.  Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency , 2006, Pediatric Research.

[21]  M. Baumgartner,et al.  Mutations in antiquitin in individuals with pyridoxine-dependent seizures , 2006, Nature Medicine.

[22]  E. Girardin,et al.  Pyridoxine-dependent seizures, clinical and therapeutic aspects , 1991, European Journal of Pediatrics.

[23]  M. Huyton,et al.  Pyridoxine dependent and pyridoxine responsive seizures , 2001, Archives of disease in childhood.

[24]  P. Baxter Pyridoxine dependent epilepsy: a suggestive electroclinical pattern , 2000, Archives of disease in childhood. Fetal and neonatal edition.

[25]  O. Dulac,et al.  Pyridoxine dependent epilepsy: a suggestive electroclinical pattern , 1999, Archives of disease in childhood. Fetal and neonatal edition.

[26]  D. Bender,et al.  Non-nutritional uses of vitamin B6 , 1999, British Journal of Nutrition.

[27]  S. Premakumari,et al.  Energy and protein requirements. , 1986, WHO chronicle.