A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency

The present work presents a “from gene defect to clinics” pathogenesis study of a patient with a hitherto unreported mutation in the CPT1A gene. In early childhood, the patient developed a life-threatening episode (hypoketotic hypoglycemia, liver cytolysis, and hepatomegaly) evocative of a mitochond...

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Bibliografische gegevens
Hoofdauteurs: Fontaine, Monique, Dessein, Anne-Frédérique, Douillard, Claire, Dobbelaere, Dries, Brivet, Michèle, Boutron, Audrey, Zater, Mokhtar, Mention-Mulliez, Karine, Martin-Ponthieu, Annie, Vianey-Saban, Christine, Briand, Gilbert, Porchet, Nicole, Vamecq, Joseph
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Berlin Heidelberg 2012
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565650/
https://ncbi.nlm.nih.gov/pubmed/23430932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_94
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