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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

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia
Background/Aims: Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder resulting from… 
2017
2017
Atrial standstill in a pediatric patient with associated caveolin-3 mutation
2016
2016
Mitochondrial diabetes in Germany and Austria
With interest, we read the article by Reinauer et al. about 13 patients with a mitochondrial disorder (MID) and diabetes from a… 
2013
2013
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia
2013
2013
Heart failure after transvenous closure of atrial septal defect associated with atrial standstill and thiamine-responsive megaloblastic anemia Sessiz atriyum ve tiyamin yanitli megaloblastik aneminin…
Summary- Despite advances in device closure for atrial septal defect, post-closure heart failure remains a clinical problem in… 
2013
2013
thiamine-responsive megaloblastic anemia (TRMA) Defective RNA ribose synthesis in fibroblasts from patients with
2009
2009
Familial sideroblastic anemia associated with cardiac atrial septal defect
Sideroblastic anemia (SA) is defined by the presence of ringed sideroblasts in the bone marrow, and may be due to both hereditary… 
2002
2002
Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis.
SLC19A2 is a membrane thiamine transporter expressed in a variety of human tissues, including the gastrointestinal tract. Little… 
2000
2000
Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome.
We report the case of a 20-yr-old girl with thiamine-responsive megaloblastic anemia (TRMA) associated with diabetes mellitus and… 
1998
1998
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity
Thiamine-responsive megaloblastic anemia (TRMA, also known as Rogers syndrome, OMIM 249270) is a rare autosomal recessive… 
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