Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review

Thiamine pyrophosphokinase (TPK) deficiency, is a rare autosomal recessive disorder of congenital metabolic dysfunction caused by variants in the TPK1 gene. TPK1 variants can lead to thiamine metabolic pathway obstacles, and its clinical manifestations are highly variable. We describe two cases of T...

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Detalles Bibliográficos
Autores principales: Zhao, Dan, Liu, Ming, Jiang, Huafang, Song, Tianyu, Xu, Chaolong, Duan, Xin, Duan, Ruoyu, Xu, Han, Liu, Zhimei, Fang, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10446836/
https://www.ncbi.nlm.nih.gov/pubmed/37622082
http://dx.doi.org/10.3389/fped.2023.1173787

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10446836/
https://www.ncbi.nlm.nih.gov/pubmed/37622082
http://dx.doi.org/10.3389/fped.2023.1173787

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