Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency. [electronic resource]
Producer: 20190520Description: 1115-1127 p. digitalISSN:- 1552-4833
- Amino Acid Sequence
- Biomarkers
- Brain -- abnormalities
- Chromatography, Liquid
- DNA Mutational Analysis
- Enoyl-CoA Hydratase -- deficiency
- Enzyme Activation
- Female
- Genetic Association Studies -- methods
- Genetic Predisposition to Disease
- Humans
- Infant
- Infant, Newborn
- Magnetic Resonance Imaging
- Male
- Metabolic Networks and Pathways
- Metabolome
- Metabolomics -- methods
- Pedigree
- Phenotype
- Tandem Mass Spectrometry
- Valine -- metabolism
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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