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

author
created [InstanceEdit:9672919] D'Eustachio, Peter, 2020-01-03
dbId 9672910
displayName 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
journal J. Med. Genet.
modified [InstanceEdit:9672921] D'Eustachio, Peter, 2020-01-03
pages 691-8
pubMedIdentifier 26251176
schemaClass LiteratureReference
title 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
url http://www.ncbi.nlm.nih.gov/pubmed/26251176
volume 52
year 2015
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