Thiamine-responsive megaloblastic anemia
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To determine causative mutations and clinical status of 7 previously unreported kindreds with TRMA syndrome, (thiamine… Expand Thiamine-responsive megaloblastic anemia syndrome is an autosomal recessive disorder characterized by diabetes mellitus… Expand Thiamine‐responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive disorder characterized by diabetes mellitus… Expand Fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA) syndrome with diabetes and deafness undergo… Expand Abstract: Thiamine‐responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder with features that include… Expand Thiamine is required for all tissues and is found in high concentrations in skeletal muscle, heart, liver, kidneys and brain. A… Expand We have investigated the cellular pathology of the syndrome called thiamine-responsive megaloblastic anemia (TRMA) with diabetes… Expand OBJECTIVE To describe a 15-year follow-up of diabetes and to present data regarding pancreatic β-cell function in two adolescents… Expand Thiamine-responsive megaloblastic anemia, also known as "TRMA" or "Rogers syndrome," is an early-onset autosomal recessive… Expand Three brothers with diabetes mellitus, thiamine-responsive megaloblastic anemia, and sensorineural deafness are reported. Two had… Expand