Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations

Mitochondrial trifunctional protein (MTP) deficiency (MTPD; MIM 609015) is a metabolic disease of fatty acid oxidation. MTPD is an autosomal recessive disorder caused by mutations in the HADHA gene, encoding the α-subunit of a trifunctional protease, or in the HADHB gene, encoding the β-subunit of a...

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Detalles Bibliográficos
Autores principales: Yang, Jinling, Yuan, Dejian, Tan, Xiaohui, Zeng, Yexi, Tang, Ning, Chen, Dayu, Tan, Jianqiang, Cai, Ren, Huang, Jun, Yan, Tizhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2022
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8674702/
https://www.ncbi.nlm.nih.gov/pubmed/34878152
http://dx.doi.org/10.3892/mmr.2021.12563

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8674702/
https://www.ncbi.nlm.nih.gov/pubmed/34878152
http://dx.doi.org/10.3892/mmr.2021.12563

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