Thiamine transporter-2 deficiency: outcome and treatment monitoring
about
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Leigh syndrome: One disorder, more than 75 monogenic causes.Treatment of genetic defects of thiamine transport and metabolism.Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.Dietary reference values for thiaminThiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.Thiamine and dystonia 16.Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause
P2860
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P2860
Thiamine transporter-2 deficiency: outcome and treatment monitoring
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Thiamine transporter-2 deficiency: outcome and treatment monitoring
@ast
Thiamine transporter-2 deficiency: outcome and treatment monitoring
@en
type
label
Thiamine transporter-2 deficiency: outcome and treatment monitoring
@ast
Thiamine transporter-2 deficiency: outcome and treatment monitoring
@en
prefLabel
Thiamine transporter-2 deficiency: outcome and treatment monitoring
@ast
Thiamine transporter-2 deficiency: outcome and treatment monitoring
@en
P2093
P2860
P50
P356
P1476
Thiamine transporter-2 deficiency: outcome and treatment monitoring
@en
P2093
Marta Molero
Mónica Rebollo
Pilar Rodríguez-Pombo
P2860
P2888
P356
10.1186/1750-1172-9-92
P50
P577
2014-06-23T00:00:00Z
P5875
P6179
1046807168