Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis. [electronic resource]
- American journal of medical genetics. Part A 01 2020
- 64-70 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.61383 doi
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