(Q42721216)

5 November 2017

Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency (English)

1 reference

5 November 2017

0 references

7

1 reference

5 November 2017

Vassili Valayannopoulos

4

object named as

Vassili Valayannopoulos

1 reference

5 November 2017

Udo F H Engelke

1

1 reference

5 November 2017

Fokje S M Zijlstra

2

1 reference

5 November 2017

Fanny Mochel

3

1 reference

5 November 2017

Daniel Rabier

5

1 reference

5 November 2017

Leo A J Kluijtmans

6

1 reference

5 November 2017

Nanda M Verhoeven-Duif

8

1 reference

5 November 2017

Pascale de Lonlay

9

1 reference

5 November 2017

Mirjam M C Wamelink

10

1 reference

5 November 2017

Cornelis Jakobs

11

1 reference

5 November 2017

Eva Morava

12

1 reference

5 November 2017

Ron A Wevers

13

1 reference

5 November 2017

language of work or name

1 reference

18 June 2010

1 reference

Biochimica et Biophysica Acta

5 November 2017

1 reference

5 November 2017

1802

1 reference

5 November 2017

11

1 reference

5 November 2017

1028-1035

1 reference

Prevention of hepatocarcinogenesis and increased susceptibility to acetaminophen-induced liver failure in transaldolase-deficient mice by N-acetylcysteine

5 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

Transaldolase deficiency in two new patients with a relative mild phenotype

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

Characterization of mammalian sedoheptulokinase and mechanism of formation of erythritol in sedoheptulokinase deficiency

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

Metabolic investigations after xylitol infusion in human subjects

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117462

Heterogeneity of glyceraldehyde-3-phosphate dehydrogenase from human brain

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20600873

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

13C and 31P NMR studies of the pentose phosphate pathway in human erythrocytes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20600873

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

THE FORMATION OF ERYTHRONIC ACID 4-PHOSPHATE FROM ERYTHROSE 4-PHOSPHATE BY GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20600873

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.BBADIS.2010.06.007

1 reference

5 November 2017

1 reference

5 November 2017

PubMed publication ID

20600873

1 reference