Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials-Reference-Cited by-同舟云学术

Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials

Published:2012-11 Issue:3 Volume:107 Page:335-344
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

van Karnebeek Clara D.M.,Hartmann Hans,Jaggumantri Sravan,Bok Levinus A.,Cheng Barb,Connolly Mary,Coughlin Curtis R.,Das Anibh M.,Gospe Sidney M.,Jakobs Cornelis,van der Lee Johanna H.,Mercimek-Mahmutoglu Saadet,Meyer Uta,Struys Eduard,Sinclair Graham,Van Hove Johan,Collet Jean-Paul,Plecko Barbara R.,Stockler Sylvia

Funder

University of British Columbia

Treatable Intellectual Disability Endeavour in B.C.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference23 articles.

1. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency);Mills;Brain,2010

2. Mutations in antiquitin in individuals with pyridoxine-dependent seizures;Mills;Nat. Med.,2006

3. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy;Gallagher;Ann. Neurol.,2009

4. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry;Basura;Eur. J. Pediatr.,2009

5. Long term outcome in pyridoxine dependent epilepsy;Bok;Dev. Med. Child Neurol.,2012

Cited by 94 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review;Epilepsy Research;2024-05

2. Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines;JIMD Reports;2024-04-03

3. Evaluating the suitability of 6-oxo-PIP as a novel biomarker for pyridoxine-dependent epilepsy in multiple samples;2024-01-16

4. Update current understanding of neurometabolic disorders related to lysine metabolism;Epilepsy & Behavior;2023-09

5. On pathways and blind alleys—The importance of biomarkers in vitamin B₆‐dependent epilepsies;Journal of Inherited Metabolic Disease;2023-07-27