Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. [electronic resource]
Producer: 20000531Description: 259-62 p. digitalISSN:- 1096-7192
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenases -- deficiency
- Adult
- Amino Acid Substitution
- Base Sequence
- Child, Preschool
- DNA -- chemistry
- DNA Mutational Analysis
- Fatal Outcome
- Female
- Humans
- Hypoglycemia -- complications
- Lipid Metabolism, Inborn Errors -- enzymology
- Male
- Mutation
- Point Mutation
- Polymerase Chain Reaction
- Seizures -- etiology
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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