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Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts

We have investigated the cellular pathology of the syndrome called thiamine-responsive megaloblastic anemia (TRMA) with diabetes and deafness. Cultured diploid fibroblasts were grown in thiamine-free medium and dialyzed serum. Normal fibroblasts survived indefinitely without supplemental thiamine, w...

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Detalhes bibliográficos
Main Authors: Stagg, Amy R., Fleming, Judith C., Baker, Meghan A., Sakamoto, Massayuki, Cohen, Nadine, Neufeld, Ellis J.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 1999
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC408117/
https://ncbi.nlm.nih.gov/pubmed/10074490
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