(Q55044144)

16 June 2018

title

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

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16 June 2018

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M M Wamelink

1

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16 June 2018

D E Smith

2

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16 June 2018

E E Jansen

3

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16 June 2018

N M Verhoeven

4

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16 June 2018

E A Struys

5

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16 June 2018

C Jakobs

6

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16 June 2018

publication date

27 June 2007

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16 June 2018

Journal of Inherited Metabolic Disease

published in

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16 June 2018

volume

30

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16 June 2018

issue

5

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16 June 2018

page(s)

735-742

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16 June 2018

https://scigraph.springernature.com/pub.10.1007/s10545-007-0590-2

exact match

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cites work

Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism

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Crossref

https://api.crossref.org/works/10.1007%2FS10545-007-0590-2

Galactose-1-phosphate in the pathophysiology of galactosemia

21 January 2018

1 reference

12 December 2020

Stereoisomeric configuration of arabinitol in serum, urine, and tissues in invasive candidiasis

1 reference

12 December 2020

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

1 reference

12 December 2020

Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency.

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Capillary gas chromatographic profiling of urinary, plasma and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method

1 reference

12 December 2020

Metabolism of D-glycero-D-manno-heptitol, volemitol, in polyanthus. Discovery Of a novel ketose reductase1

1 reference

12 December 2020

Determination of polyol profiles in human urine by capillary gas chromatography

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Clinical presentations of patients with polyol abnormalities.

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12 December 2020

The occurrence of sedoheptulose in human urine

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12 December 2020

Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy

1 reference

12 December 2020

10.1007/S10545-007-0590-2

Identifiers

DOI

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16 June 2018

Dimensions Publication ID

1047909019

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16 June 2018