Article
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts.
The Journal of clinical investigation - 1 Mar 1999
Stagg A R, Fleming J C, Baker M A, Sakamoto M, Cohen N, Neufeld E J
Abstract excerpt
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...
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