Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family()

We report an 8-year-old girl with lower limb weakness since birth in whom mitochondrial trifunctional protein (MTP) deficiency, an autosomal recessive fatty acid oxidation disorder caused by HADHA or HADHB mutations, had not been definitively diagnosed before she was referred to our hospital. Repeat...

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Detalles Bibliográficos
Autores principales: Fu, Xiaona, Zheng, Feixia, Zhang, Yao, Bao, Xinhua, Wang, Shuang, Yang, Yanling, Xiong, Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471393/
https://www.ncbi.nlm.nih.gov/pubmed/28649548
http://dx.doi.org/10.1016/j.ymgmr.2015.10.015

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