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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| Veröffentlicht in: | Journal of inherited metabolic disease 1995-01, Vol.18 (2), p.241-244 |
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| container_end_page | 244 |
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| container_issue | 2 |
| container_start_page | 241 |
| container_title | Journal of inherited metabolic disease |
| container_volume | 18 |
| creator | Ijlst, L. Uskikubo, S. Kamijo, T. Hashimoto, T. Ruiter, J. P. N. Klerk, J. B. C. Wanders, R. J. A. |
| description | |
| doi_str_mv | 10.1007/BF00711778 |
| format | Article |
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| fulltext | fulltext |
| identifier | ISSN: 0141-8955 |
| ispartof | Journal of inherited metabolic disease, 1995-01, Vol.18 (2), p.241-244 |
| issn | 0141-8955 1573-2665 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_77646744 |
| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | 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 |
| title | 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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