Thiamine transporter-2 deficiency: outcome and treatment monitoring

BACKGROUND: The clinical characteristics distinguishing treatable thiamine transporter-2 deficiency (ThTR2) due to SLC19A3 genetic defects from the other devastating causes of Leigh syndrome are sparse. METHODS: We report the clinical follow-up after thiamine and biotin supplementation in four child...

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Detalles Bibliográficos
Autores principales: Ortigoza-Escobar, Juan Darío, Serrano, Mercedes, Molero, Marta, Oyarzabal, Alfonso, Rebollo, Mónica, Muchart, Jordi, Artuch, Rafael, Rodríguez-Pombo, Pilar, Pérez-Dueñas, Belén
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099387/
https://www.ncbi.nlm.nih.gov/pubmed/24957181
http://dx.doi.org/10.1186/1750-1172-9-92

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099387/
https://www.ncbi.nlm.nih.gov/pubmed/24957181
http://dx.doi.org/10.1186/1750-1172-9-92

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