Schmidt, M Rahbek
Barth syndrome without 3-methylglutaconic aciduria. [electronic resource]
- Acta paediatrica (Oslo, Norway : 1992) Mar 2004
- 419-21 p. digital
Publication Type: Case Reports; Journal Article
0803-5253
10.1080/08035250410022837 doi
Arginine--genetics
Cardiomyopathies--diagnosis
Chromosomes, Human, X
Fatal Outcome
Glutarates
Glycine--genetics
Humans
Infant, Newborn
Male
Muscular Diseases--diagnosis
Mutation
Mutation, Missense
Pedigree
Syndrome