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Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4

BACKGROUND: Thiamine metabolism dysfunction syndrome 4 (THMD4, OMIM #613710) is an autosomal recessive inherited disease caused by the deficiency of SLC25A19 that encodes the mitochondrial thiamine pyrophosphate (TPP) transporter. This disorder is characterized by bilateral striatal degradation and...

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Detalles Bibliográficos
Autores principales:	Chen, Yuanying, Fang, Boliang, Hu, Xuyun, Guo, Ruolan, Guo, Jun, Fang, Kenan, Ni, Jingwen, Li, Wei, Qian, Suyun, Hao, Chanjuan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8480130/ https://www.ncbi.nlm.nih.gov/pubmed/34587972 http://dx.doi.org/10.1186/s13023-021-02028-4

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