Linked Life Data

14627317

Source:http://linkedlifedata.com/resource/pubmed/id/14627317

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2003-11-20
pubmed:databankReference
pubmed:abstractText
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment. Other features of this syndrome gradually develop. We describe three TRMA patients with heart rhythm abnormalities and structural cardiac anomalies. Eight other reported TRMA patients also had cardiac anomalies. Recently, the TRMA gene, SLC19A2, was identified, encoding a functional thiamine transporter. Characterization of the metabolic defect of TRMA may shed light on the role of thiamine in common cardiac abnormalities.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0172-0643
pubmed:author
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
476-81
pubmed:dateRevised
2008-2-20
pubmed:meshHeading
pubmed:articleTitle
Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome.
pubmed:affiliation
Department of Pediatric Cardiology, Rambam Medical Center, PO Box 9602, Haifa 31096, Israel.
pubmed:publicationType
Journal Article, Review, Case Reports