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Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.
Carnitine palmitoyltransferase (CPT) II deficiency, an inherited disorder of mitochondrial long-chain fatty-acid (LCFA) oxidation, results in two distinct clinical phenotypes, namely, an adult (muscular) form and an infantile (hepatocardiomuscular) form. The rationale of this phenotypic heterogeneit...
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| Main Authors: | , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
1996
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1914604/ https://ncbi.nlm.nih.gov/pubmed/8651281 |
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