Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review

Thiamine metabolism dysfunction syndrome 2 (THMD2) is a rare metabolic disorder caused by SLC19A3 mutations, inherited in autosomal recessive pattern. As a treatable disease, early diagnosis and therapy with vitamin supplementation is important to improve the prognosis. So far, the reported cases we...

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Detalles Bibliográficos
Autores principales: Wang, Jiaping, Wang, Junling, Han, Xiaodi, Liu, Zhimei, Ma, Yanli, Chen, Guohong, Zhang, Haoya, Sun, Dan, Xu, Ruifeng, Liu, Yi, Zhang, Yuqin, Wen, Yongxin, Bao, Xinhua, Chen, Qian, Fang, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8281341/
https://www.ncbi.nlm.nih.gov/pubmed/34276785
http://dx.doi.org/10.3389/fgene.2021.683255

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