Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum. - Wikidata - awgldk - TriplyDB

Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

http://www.wikidata.org/entity/Q33424896

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N-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.

P2860

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P2860

Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

http://www.wikidata.org/entity/Q33424896

description

2015 nî lūn-bûn

@nan

2015 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

name

Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

@ast

Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

@en

type

label

Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

@ast

Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

@en

prefLabel

Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

@ast

Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

@en

P1433

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P1433

Journal of Inherited Metabolic Disorders Reports

P1476

Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

@en

P2093

Amir Zilkha

http://www.w3.org/2001/XMLSchema#string

Avraham Shaag

http://www.w3.org/2001/XMLSchema#string

Ayala Frumkin

http://www.w3.org/2001/XMLSchema#string

Ayelet Gamliel

http://www.w3.org/2001/XMLSchema#string

Dan Arbell

http://www.w3.org/2001/XMLSchema#string

Ehud Banne

http://www.w3.org/2001/XMLSchema#string

Elite Cohen

http://www.w3.org/2001/XMLSchema#string

Morasha Plesser Duvdevani

http://www.w3.org/2001/XMLSchema#string

Rachel Katz-Brull

http://www.w3.org/2001/XMLSchema#string

Smadar Eventov-Friedman

http://www.w3.org/2001/XMLSchema#string

P2860

Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway

The pathogenesis of transaldolase deficiency

Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.

Transaldolase deficiency in a two-year-old boy with cirrhosis.

Transaldolase deficiency in two new patients with a relative mild phenotype.

Clinical and molecular characteristics of two transaldolase-deficient patients.

Failure to pass meconium: diagnosing neonatal intestinal obstruction.

Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.

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

The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review.

P304

31-36

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1007/8904_2015_474

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P478

26

http://www.w3.org/2001/XMLSchema#string

P577

2015-08-04T00:00:00Z

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P5875

280694757

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P698

26238251

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P932

4864716

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