Transaldolase deficiency in a two-year-old boy with cirrhosis (Q33378922)

26 July 2017

title

Transaldolase deficiency in a two-year-old boy with cirrhosis (English)

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26 July 2017

Mirjam M Wamelink

1

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26 July 2017

Eduard A Struys

2

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26 July 2017

Gajja S Salomons

3

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26 July 2017

Darren Fowler

4

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26 July 2017

Cornelis Jakobs

5

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26 July 2017

Peter T Clayton

6

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26 July 2017

publication date

10 March 2008

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Molecular Genetics and Metabolism

26 July 2017

published in

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26 July 2017

volume

94

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26 July 2017

issue

2

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26 July 2017

page(s)

255-258

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

26 July 2017

cites work

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.011

A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.011

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.011

Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.011

Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.011

The three-dimensional structure of human transaldolase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.011

CRYM mutations cause deafness through thyroid hormone binding properties in the fibrocytes of the cochlea

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.011

Transaldolase is essential for maintenance of the mitochondrial transmembrane potential and fertility of spermatozoa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.011

Study of transaldolase deficiency in urine samples by capillary LC-MS/MS.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.011

10.1016/J.YMGME.2008.01.011

7 January 2021

Identifiers

DOI

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26 July 2017

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