Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts

J Inherit Metab Dis. 1992;15(3):359-62. doi: 10.1007/BF02435976.

Authors

O Søvik¹, J M Saudubray, A Munnich, L Sweetman

Affiliation

¹ Department of Pediatrics, University of Bergen, Haukeland Hospital, Norway.

PMID: 1405470
DOI: 10.1007/BF02435976

No abstract available

MeSH terms

Acetyl-CoA C-Acyltransferase / deficiency*
Acetyl-CoA C-Acyltransferase / genetics
Acetyl-CoA C-Acyltransferase / metabolism
Cell Fusion
Cells, Cultured
Fibroblasts / enzymology*
Fibroblasts / ultrastructure
Humans
Isoleucine / metabolism
Mitochondria / enzymology*

Substances

Isoleucine
Acetyl-CoA C-Acyltransferase