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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… 
National Institutes of Health

Papers overview

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Highly Cited
2009
Highly Cited
2009
Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.
Highly Cited
2004
Highly Cited
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… 
Highly Cited
2003
Highly Cited
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… 
Review
2002
Review
2002
TRMA syndrome (thiamine‐responsive megaloblastic anemia): a case report and review of the literature
Abstract: Thiamine‐responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder with features that include… 
Highly Cited
2002
Highly Cited
2002
Reduced folate carrier transports thiamine monophosphate: an alternative route for thiamine delivery into mammalian cells.
Although the reduced folate carrier RFC1 and the thiamine transporters THTR-1 and THTR-2 share approximately 40% of their… 
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… 
Highly Cited
1999
Highly Cited
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… 
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… 
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… 
Highly Cited
1997
Highly Cited
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… 
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