Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families
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sameAs
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutationsVitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulationWernicke's encephalopathy during parenteral nutrition.Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome?A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.Defects of thiamine transport and metabolism.Clinical applications and implications of common and founder mutations in Indian subpopulations.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.Right ventricular dysfunction in thiamine-responsive megaloblastic anaemia syndrome: a case report.Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings.Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations.Clinical significance of SF3B1 mutations in Korean patients with myelodysplastic syndromes and myelodysplasia/myeloproliferative neoplasms with ring sideroblasts.
P2860
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P2860
Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families
description
2006 nî lūn-bûn
@nan
2006 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Thiamine-responsive megaloblas ...... ion analysis of seven families
@ast
Thiamine-responsive megaloblas ...... ion analysis of seven families
@en
Thiamine-responsive megaloblas ...... ion analysis of seven families
@nl
type
label
Thiamine-responsive megaloblas ...... ion analysis of seven families
@ast
Thiamine-responsive megaloblas ...... ion analysis of seven families
@en
Thiamine-responsive megaloblas ...... ion analysis of seven families
@nl
altLabel
Thiamine-responsive megaloblas ...... ion analysis of seven families
@en
prefLabel
Thiamine-responsive megaloblas ...... ion analysis of seven families
@ast
Thiamine-responsive megaloblas ...... ion analysis of seven families
@en
Thiamine-responsive megaloblas ...... ion analysis of seven families
@nl
P2093
P1433
P1476
Thiamine-responsive megaloblas ...... ion analysis of seven families
@en
Thiamine-responsive megaloblas ...... ion analysis of seven families
@en
P2093
Christopher J Ricketts
Christopher Ricketts
Indra Ariyawansa
Jacob Samuel
Jayne A Minton
Jayne Minton
Jerry K Wales
Jerry Wales
P304
P356
10.1080/08035250500323715
10.1111/J.1651-2227.2006.TB02188.X
P407
P577
2006-01-01T00:00:00Z