Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population-Reference-Cited by-同舟云学术

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population

Published:2024-07 Issue:3 Volume:142 Page:108508
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Bernhardt Isaac,Frajman Leah E.,Ryder Bryony,Andersen Erik,Wilson Callum,McKeown Colina,Anderson Tim,Coman David,Vincent Andrea L.,Buchanan Christina,Roxburgh Richard,Pitt James,De Hora Mark,Christodoulou John,Thorburn David R.,Wilson Francessa,Drake Kylie M.,Leask Megan,Yardley Anne-Marie,Merriman Tony,Robertson Stephen,Compton Alison G.,Glamuzina Emma

Publisher

Elsevier BV

Reference34 articles.

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3. 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

4. ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome;Sakai;Hum. Mutat.,2015

5. Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency;Bedoyan;Mol. Genet. Metab.,2017

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