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Impaired amino acid metabolism contributes to fasting-induced hypoglycemia in fatty acid oxidation defects.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5249, doi. 10.1093/hmg/ddt382
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- Publication type:
- Article
A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. 1899, doi. 10.1002/humu.23839
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- Publication type:
- Article