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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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Main Authors: | , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
BioMed Central
2014
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4099387/ https://ncbi.nlm.nih.gov/pubmed/24957181 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-92 |
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