Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency-Reference-Cited by-同舟云学术

Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency

Published:2020-09 Issue: Volume:28 Page:151-158
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Masnada Silvia^ORCID,Parazzini Cecilia,Bini Paolo,Barbarini Mario,Alberti Luisella,Valente Marialuisa,Chiapparini Luisa,De Silvestri Annalisa^ORCID,Doneda Chiara,Iascone Maria,Saielli Laura Assunta,Cereda Cristina,Veggiotti Pierangelo,Corbetta Carlo,Tonduti Davide

Funder

RARE project - Rapid Analysis for Rapid carE

Independent Research

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference26 articles.

1. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement;Haack;Ann Clin Transl Neurol,2015

2. Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion;Yamada;J. Med. Genet.,2015

3. Molecular cloning and sequence analysis of the cDNA for human mitochondrial short-chain enoyl-CoA hydratase;Kanazawa;Enzyme Protein,1993

4. ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism;Peters;Brain,2014

5. Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome;Tetreault;Hum. Genet.,2015

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

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

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

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