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Carnitine-acylcarnitine translocase deficiency: a case report with autopsy

Fatty acid oxidation defects are a heterogeneous group of disorders related to the mitochondrial fatty acid oxidation pathway. Carnitine acylcarnitine translocase (CACT) is an enzyme responsible for the unidirectional transport of acylcarnitine across the inner mitochondrial membrane. This enzyme pl...

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Autors principals: Chennakeshava Thunga, Suvradeep Mitra, Devi Dayal, Sadhna Lal
Format: Artigo
Idioma:Inglês
Publicat: University of São Paulo 2024-04-01
Col·lecció:Autopsy and Case Reports
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Accés en línia:https://www.revistas.usp.br/autopsy/article/view/223702
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