FAQ

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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1985-2018
02419852018

Papers overview

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2013
2013
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia
Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive syndrome characterized by early-onset anemia, diabetes… (More)
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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… (More)
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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… (More)
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2009
2009
Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia.
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder characterized by megaloblastic anemia… (More)
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2006
2006
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2.
The water-soluble micronutrient thiamine is required for normal tissue growth and development in humans. Thiamine is accumulated… (More)
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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… (More)
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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… (More)
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2002
2002
Mitochondria from cultured cells derived from normal and thiamine-responsive megaloblastic anemia individuals efficiently import thiamine diphosphate
Thiamine diphosphate (ThDP) is the active form of thiamine, and it serves as a cofactor for several enzymes, both cytosolic and… (More)
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1999
1999
Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23.
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive syndrome characterized by megaloblastic anemia… (More)
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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… (More)
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