Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.
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C. V. van Karnebeek | S. Gospe | B. Plecko | S. Stockler-Ipsiroglu | J. V. Van Hove | L. Bok | N. Verhoeven | P. Baxter | A. Das | E. Struys | P. Mills | K. Ueda | H. Hartmann | U. Meyer | C. Coughlin | M. Albersen | R. Gallagher | D. Buhas | Alette Giezen | G. Ho | B. Assmann | W. Al-Hertani | S. Jaggumantri | B. Cheng
[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.