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Thiamine-responsive megaloblastic anemia

A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the… Expand
National Institutes of Health

Papers overview

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2009
2009
Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.
OBJECTIVE To determine causative mutations and clinical status of 7 previously unreported kindreds with TRMA syndrome, (thiamine… Expand
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2009
2009
Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness.
Thiamine-responsive megaloblastic anemia syndrome is an autosomal recessive disorder characterized by diabetes mellitus… Expand
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2004
2004
Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive disorder characterized by diabetes mellitus… Expand
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2003
2003
Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA).
Fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA) syndrome with diabetes and deafness undergo… Expand
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Review
2001
Review
2001
Molecular mechanisms of thiamine utilization.
Thiamine is required for all tissues and is found in high concentrations in skeletal muscle, heart, liver, kidneys and brain. A… Expand
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1999
1999
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… Expand
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Highly Cited
1999
Highly Cited
1999
Cloning of the Human Thiamine Transporter, a Member of the Folate Transporter Family*
We have isolated a cDNA from human placenta, which, when expressed heterologously in mammalian cells, mediates the transport of… Expand
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Review
1998
Review
1998
Long-Term Follow-Up of Diabetes in Two Patients With Thiamine-Responsive Megaloblastic Anemia Syndrome
OBJECTIVE To describe a 15-year follow-up of diabetes and to present data regarding pancreatic β-cell function in two adolescents… Expand
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1997
1997
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.
Thiamine-responsive megaloblastic anemia, also known as "TRMA" or "Rogers syndrome," is an early-onset autosomal recessive… Expand
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1985
1985
Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity.
Three brothers with diabetes mellitus, thiamine-responsive megaloblastic anemia, and sensorineural deafness are reported. Two had… Expand
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