Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation
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DOI: 10.1055/s-0040-1717136
Abstract: Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder characterized by the development of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. We report on the first two Croatian patients with TRMA, compound heterozygotes for nonsense,… read more here.
Keywords: anemia; responsive megaloblastic; megaloblastic anemia; thiamine responsive ... See more keywords
Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease
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DOI: 10.1212/wnl.0000000000206832
Abstract: Biotin thiamine responsive basal ganglia disease (BTRBGD) is an inherited autosomal recessive disorder that results from the inability of thiamine to cross the blood–brain barrier. It is considered a treatable condition if vitamin supplementation, most… read more here.
Keywords: thiamine responsive; neurology; responsive basal; biotin ... See more keywords
Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation
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DOI: 10.1515/jpem-2016-0322
Abstract: Abstract Three siblings with thiamine-responsive megaloblastic anemia (TRMA) with a homozygous c.454delGGCATinsAT mutation in SLC19A2 are described. The index case presented at 14 months’ old with severe non-ketotic hyperglycemia, dehydration, seizures and sinovenous thrombosis. She… read more here.
Keywords: anemia trma; responsive megaloblastic; megaloblastic anemia; thiamine responsive ... See more keywords
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.
Sign Up to like & getrecommendations! Published in 2017 at "Archivos argentinos de pediatria"
DOI: 10.5546/aap.2017.eng.e153
Abstract: BACKGROUND Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound… read more here.
Keywords: anemia syndrome; anemia; responsive megaloblastic; megaloblastic anemia ... See more keywords