Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome

Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome

Item
http://www.wikidata.org/entity/Q28247872
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3A review of the biochemistry, metabolism and clinical benefits of thiamin(e) and its derivatives.Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulationNeonatal diabetes: an expanding list of genes allows for improved diagnosis and treatmentThiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhoodBiotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2Intestinal absorption of water-soluble vitamins in health and diseaseThiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.Anemia in a Child with Deafness: Be Vigilant for a Rare Cause!Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.Treatment of genetic defects of thiamine transport and metabolism.Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation.Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.Recurrent Stroke in a Child with TRMA Syndrome and SLC19A2 Gene Mutation.Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2.
P2860

Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome

Item
http://www.wikidata.org/entity/Q28247872
description
2004 nî lūn-bûn
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2004 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մարտին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Novel mutation in the SLC19A2 ...... megaloblastic anemia syndrome
@ast
Novel mutation in the SLC19A2 ...... megaloblastic anemia syndrome
@en
Novel mutation in the SLC19A2 ...... megaloblastic anemia syndrome
@nl
type
label
Novel mutation in the SLC19A2 ...... megaloblastic anemia syndrome
@ast
Novel mutation in the SLC19A2 ...... megaloblastic anemia syndrome
@en
Novel mutation in the SLC19A2 ...... megaloblastic anemia syndrome
@nl
prefLabel
Novel mutation in the SLC19A2 ...... megaloblastic anemia syndrome
@ast
Novel mutation in the SLC19A2 ...... megaloblastic anemia syndrome
@en
Novel mutation in the SLC19A2 ...... megaloblastic anemia syndrome
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P921
P356
P1433
P1476
Novel mutation in the SLC19A2 ...... megaloblastic anemia syndrome
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P921