Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.
Ijlst
L
L
Academic Medical Centre, University Hospital Amsterdam, Department of Pediatric, The Netherlands.
Uskikubo
S
S
Kamijo
T
T
Hashimoto
T
T
Ruiter
J P
JP
de Klerk
J B
JB
Wanders
R J
RJ
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D000102:Acetyl-CoA C-Acyltransferase / Q000378:metabolism; D000293:Adolescent; D001483:Base Sequence; D002478:Cells, Cultured; D004746:Enoyl-CoA Hydratase / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006720:Homozygote; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D008928:Mitochondria / Q000201:enzymology / Q000378:metabolism; D063991:Mitochondrial Trifunctional Protein; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000378:metabolism; D009154:Mutation; D010641:Phenotype
D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases; D000102:Acetyl-CoA C-Acyltransferase; D063991:Mitochondrial Trifunctional Protein; D004746:Enoyl-CoA Hydratase