Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis

J Inherit Metab Dis. 1994;17(3):271-4. doi: 10.1007/BF00711805.

Authors

M Brivet¹, A Slama, H Ogier, A Boutron, F Demaugre, J M Saudubray, A Lemonnier

Affiliation

¹ Laboratoire de biochimie, Hopital de Bicêtre, Le Kremlin Bicêtre, France.

PMID: 7807931
DOI: 10.1007/BF00711805

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Twin Study

MeSH terms

Carnitine Acyltransferases / deficiency*
Carnitine Acyltransferases / genetics
Cell Fusion
Cells, Cultured
Diseases in Twins / genetics
Fatal Outcome
Fatty Acids / metabolism
Fibroblasts / enzymology
Fibroblasts / metabolism
Genetic Complementation Test*
Humans
Infant, Newborn
Oxidation-Reduction
Twins, Dizygotic

Substances

Fatty Acids
Carnitine Acyltransferases