Baban, Anwar

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