Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.
Journal Article (Journal Article)
Full Text
Duke Authors
Cited Authors
- Brivet, M; Slama, A; Millington, DS; Roe, CR; Demaugre, F; Legrand, A; Boutron, A; Poggi, F; Saudubray, JM
Published Date
- 1996
Published In
Volume / Issue
- 19 / 2
Start / End Page
- 181 - 184
PubMed ID
- 8739960
International Standard Serial Number (ISSN)
- 0141-8955
Digital Object Identifier (DOI)
- 10.1007/BF01799424
Language
- eng
Conference Location
- United States