Late-Onset Carnitine–Acylcarnitine Translocase Deficiency With SLC25A20 c.199-10T>G Variation: Case Report and Pathologic Analysis of Liver Biopsy

Introduction: Carnitine–acylcarnitine translocase deficiency (CACTD) is a rare and life-threatening autosomal recessive disorder of mitochondrial fatty acid oxidation caused by variation of the Solute carrier family 25 member 20 (SLC25A20) gene. Carnitine–acylcarnitine translocase is one of the cruc...

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Detalles Bibliográficos
Autores principales: Chen, Min, Cai, Yao, Li, Sitao, Xiong, Hui, Liu, Mengxian, Ma, Fei, Xiao, Xin, Hao, Hu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7661852/
https://www.ncbi.nlm.nih.gov/pubmed/33194920
http://dx.doi.org/10.3389/fped.2020.585646

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7661852/
https://www.ncbi.nlm.nih.gov/pubmed/33194920
http://dx.doi.org/10.3389/fped.2020.585646

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