Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.

Item
http://www.wikidata.org/entity/Q34322321
Clinical and molecular characteristics of two transaldolase-deficient patients.Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.Pulmonary manifestations in a patient with transaldolase deficiency.The return of metabolism: biochemistry and physiology of the pentose phosphate pathwayMutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.Two isoforms of TALDO1 generated by alternative translational initiation show differential nucleocytoplasmic distribution to regulate the global metabolic network.Metabolomic screening of pre-diagnostic serum samples identifies association between α- and γ-tocopherols and glioblastoma risk.Novel association of early onset hepatocellular carcinoma with transaldolase deficiencyN-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels.Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients.Defective TALDO1 does not transform Fru(6)P; E4P to SH7P; GA3PDefective TALDO1 does not transform SH7P; GA3P to Fru(6)P; E4P
P2860

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.

Item
http://www.wikidata.org/entity/Q34322321
description
2013 nî lūn-bûn
@nan
2013 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Transaldolase deficiency: repo ...... delineation of the phenotype.
@ast
Transaldolase deficiency: repo ...... delineation of the phenotype.
@en
Transaldolase deficiency: repo ...... delineation of the phenotype.
@nl
type
label
Transaldolase deficiency: repo ...... delineation of the phenotype.
@ast
Transaldolase deficiency: repo ...... delineation of the phenotype.
@en
Transaldolase deficiency: repo ...... delineation of the phenotype.
@nl
prefLabel
Transaldolase deficiency: repo ...... delineation of the phenotype.
@ast
Transaldolase deficiency: repo ...... delineation of the phenotype.
@en
Transaldolase deficiency: repo ...... delineation of the phenotype.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P6179
P698
P356
P1433
P1476
Transaldolase deficiency: repo ...... delineation of the phenotype.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P6179
P698