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Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.
OBJECTIVES: Carnitine palmitoyltransferase (CPT) deficiency is one of the most common defects of mitochondrial fatty acid oxidation. Two different enzymes (CPT-I and CPT-II) are involved. Due to problems in measuring enzyme activity, relatively little is known about the substrate specificity of each...
Zapisane w:
| Wydane w: | J Neurol Neurosurg Psychiatry |
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| Główni autorzy: | , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BMJ Publishing Group
1997
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC486729/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9048718/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jnnp.62.2.169 |
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