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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Bibliografiska uppgifter
I publikationen:Pediatr Gastroenterol Hepatol Nutr
Huvudupphovsmän: Choi, Jong Sub, Yoo, Hyeoh Won, Lee, Kyung Jae, Ko, Jung Min, Moon, Jin Soo, Ko, Jae Sung
Materialtyp: Artigo
Språk:Inglês
Publicerad: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2016
Ämnen:
Case Report
Länkar: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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