Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis. [electronic resource]
Producer: 20201228Description: 64-70 p. digitalISSN:- 1552-4833
- Acyltransferases
- Adult
- Age of Onset
- Barth Syndrome -- genetics
- Cardiomyopathies -- genetics
- Child
- Female
- Glutarates -- metabolism
- Humans
- Infant
- Infant, Newborn
- Male
- Membrane Proteins -- genetics
- Metabolic Syndrome -- genetics
- Metabolism, Inborn Errors -- genetics
- Mitochondrial Proteins -- genetics
- Mutation -- genetics
- Transcription Factors -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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