Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet-Reference-Cited by-同舟云学术

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Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet

Published:2020-09 Issue: Volume:24 Page:100617
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Abdenur J.E.,Sowa M.,Simon M.,Steenari M.,Skaar J.,Eftekharian S.,Chang R.,Ferdinandusse S.,Pitt J.

Funder

National Institutes of Health

Fry Family Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference23 articles.

1. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration;Loupatty;Am. J. Hum. Genet.,2007

2. beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations;Brown;Pediatrics,1982

3. A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene;Schottmann;Mov. Disord.,2016

4. A therapeutic regimen for 3-hydroxyisobutyryl-CoA hydrolase deficiency with exercise-induced dystonia;Xu;Eur. J. Paediatr. Neurol.,2019

5. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase;Ferdinandusse;Orphanet J. Rare Dis.,2013

Cited by 19 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. Valine restriction extends survival in aDrosophilamodel of short-chain enoyl-CoA hydratase 1 (ECHS1) deficiency;2024-08-17

2. Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population;Molecular Genetics and Metabolism;2024-07

3. Valine and Inflammation Drive Epilepsy in a Mouse Model of ECHS1 Deficiency;2024-06-13

4. Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity;Metabolic Brain Disease;2024-02-16

5. Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges;Journal of Inherited Metabolic Disease;2023-09

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