Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of inherited metabolic disease 1995-01, Vol.18 (2), p.241-244
Hauptverfasser:	Ijlst, L., Uskikubo, S., Kamijo, T., Hashimoto, T., Ruiter, J. P. N., Klerk, J. B. C., Wanders, R. J. A.
Format:	Artikel
Sprache:	eng
Schlagworte:	3-Hydroxyacyl CoA Dehydrogenases - deficiency 3-Hydroxyacyl CoA Dehydrogenases - genetics 3-Hydroxyacyl CoA Dehydrogenases - metabolism Acetyl-CoA C-Acyltransferase - metabolism Adolescent Base Sequence Biological and medical sciences Cells, Cultured Enoyl-CoA Hydratase - metabolism Errors of metabolism Female Fibroblasts - enzymology Homozygote Humans Lipid Metabolism, Inborn Errors - diagnosis Lipid Metabolism, Inborn Errors - enzymology Lipid Metabolism, Inborn Errors - genetics Lipids (lysosomal enzyme disorders, storage diseases) Medical sciences Metabolic diseases Mitochondria - enzymology Mitochondria - metabolism Mitochondrial Trifunctional Protein Molecular Sequence Data Multienzyme Complexes - metabolism Mutation Phenotype
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