A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

Carnitine-acylcarnitine translocase (CACT) deficiency is a fatty acid ß-oxidation disorder of the carnitine shuttle in mitochondria, with a high mortality rate in childhood. We evaluated three patients, including two siblings, with neonatal-onset CACT deficiency and revealed identical homozygous mis...

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Detalles Bibliográficos
Autores principales: Chinen, Yasutsugu, Yanagi, Kumiko, Nakamura, Sadao, Nakayama, Noriko, Kamiya, Motoko, Nakayashiro, Mami, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7162975/
https://www.ncbi.nlm.nih.gov/pubmed/32337051
http://dx.doi.org/10.1038/s41439-020-0098-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7162975/
https://www.ncbi.nlm.nih.gov/pubmed/32337051
http://dx.doi.org/10.1038/s41439-020-0098-y

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