P2293
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mappingNovel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndromeThiamine-responsive megaloblastic anemia syndromeDefective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts.Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport.Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome.Long-term follow-up of diabetes in two patients with thiamine-responsive megaloblastic anemia syndrome.Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinentThiamine-responsive megaloblastic anemia syndrome: long term follow-up.Thiamine responsive megaloblastic anemia syndrome.A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome.Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy.Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.Cochlear implant and thiamine-responsive megaloblastic anemia syndrome.Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2.Thiamine-responsive megaloblastic anemia syndrome: a novel mutation.Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report.Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome.Acute Ischemic Stroke in a Young Woman with the Thiamine-Responsive Megaloblastic Anemia SyndromeLocalization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity
P921
Q24676952-5B0257AB-2517-408C-95C9-1601FA2D7A8BQ28247872-978D8150-81B5-4602-9D3C-BB4A24D462F8Q28293112-56A7A5EA-9B88-4F70-BE72-0D0FC733B655Q30500630-DB5C6ECB-E78C-43E4-A2EB-EC16D362F6ECQ34254404-39AA3196-645C-4E4D-A852-B0BFB271B1C4Q35588926-0D05BD65-4917-4C35-A266-981ED9374271Q41737039-8EC327D5-3904-4A4A-B7B0-6A1BB4B877A1Q42244711-0F109E35-8701-4F16-ABD5-44627B97AF33Q45924803-8A12C90D-9BB9-41FE-905A-31C855C9B901Q46060649-2962B927-14A4-4684-94DD-9E82D4180009Q46492816-3C7057FB-568A-45FF-8D1D-5A929DC28575Q49069731-80988440-6F12-4636-982F-3991119B2A4EQ50346703-A8386FB9-B556-4397-8F04-7ECC92BF19A7Q50356121-55187B3C-06B9-4095-A793-F2A40055CD68Q50425811-485B0190-399A-4B08-BE6E-E72DBE4839A3Q50426033-283984CB-9980-4504-9374-F6FC1846A66FQ50429493-6F1FE8BE-4867-40EF-BFDE-C861B6568CF6Q50435201-77A7E916-D656-423F-8A0C-B9C6E3507AA6Q50497317-414B3283-F95A-4094-B39F-69927E8EB970Q60660823-0CBD49E4-81CF-4562-86F8-0A493AC8CACFQ74583141-D212BA18-0A4E-49B2-A699-DE2F5378DE82Q77694542-F39A2BC6-BDF3-45EA-B47C-41D8D61D8EC1
P921
description
Krankheit
@de
Thiamine-responsive megaloblas ...... us, and sensorineural deafness
@en
malattia
@it
name
Rogers-Syndrom
@de
anémie mégaloblastique thiamine-sensible
@fr
thiamine-responsive megaloblastic anemia syndrome
@en
type
label
Rogers-Syndrom
@de
anémie mégaloblastique thiamine-sensible
@fr
thiamine-responsive megaloblastic anemia syndrome
@en
altLabel
Anemie megaloblastique thiamine-sensible
@fr
Anémie Mégaloblastique Thiamine-sensible
@fr
Megaloblastic Anemia, Thiamine ...... tus and Sensorineural Deafness
@en
Megaloblastic anemia thiamine- ...... tus and sensorineural deafness
@en
Rogers syndrome
@en
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
@en
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA
@en
THMD1
@en
TRMA
@en
Thiamine Metabolism Dysfunctio ...... s Mellitus, and Deafness Type)
@en
prefLabel
Rogers-Syndrom
@de
anémie mégaloblastique thiamine-sensible
@fr
thiamine-responsive megaloblastic anemia syndrome
@en
P1550
P279
P31
P486
P1995
P2293
P279
P2892
P4229
P486
P492
P5270
MONDO:0009575
P699
DOID:0090117