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Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency
Carnitine palmitoyltransferase 1A (CPT1A) is an enzyme functioning in mitochondrial fatty acid oxidation (FAO) of the liver. Patients with CPT1A deficiency have impaired mitochondrial FAO and display hypoketotic hypoglycemia and hepatic encephalopathy as typical manifestations. In this report, we pr...
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| Udgivet i: | Pediatr Gastroenterol Hepatol Nutr |
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| Main Authors: | , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
2016
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4821986/ https://ncbi.nlm.nih.gov/pubmed/27066452 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5223/pghn.2016.19.1.76 |
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