(Q34022555)

30 July 2017

title

The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency (English)

1 reference

Ribose-5-phosphate isomerase deficiency

30 July 2017

main subject

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author

Markus Ralser

series ordinal

7

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30 July 2017

5

Hans Lehrach

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30 July 2017

1

Mirjam M C Wamelink

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30 July 2017

4

Katharina Bluemlein

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30 July 2017

2

Nana-Maria Grüning

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30 July 2017

Erwin E W Jansen

3

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30 July 2017

Cornelis Jakobs

series ordinal

6

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30 July 2017

publication date

25 May 2010

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Journal of Molecular Medicine

30 July 2017

published in

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30 July 2017

volume

88

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30 July 2017

issue

9

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30 July 2017

page(s)

931-939

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Triosephosphate isomerase deficiency: new insights into an enigmatic disease

30 July 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00109-010-0634-1

The pentose phosphate pathway of glucose metabolism. Measurement of the non-oxidative reactions of the cycle

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00109-010-0634-1

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

21 January 2018

1 reference

12 December 2020

Glucose-6-phosphate dehydrogenase deficiency

1 reference

12 December 2020

Hematologically important mutations: triosephosphate isomerase

1 reference

12 December 2020

Triose phosphate isomerase deficiency is caused by altered dimerization--not catalytic inactivity--of the mutant enzymes

1 reference

12 December 2020

Yeast vectors for the controlled expression of heterologous proteins in different genetic backgrounds

1 reference

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

1 reference

12 December 2020

Leukoencephalopathy associated with a disturbance in the metabolism of polyols

1 reference

12 December 2020

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

1 reference

12 December 2020

Tandem affinity purification combined with mass spectrometry to identify components of protein complexes

1 reference

12 December 2020

Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways

1 reference

12 December 2020

Hypoxic up-regulation of triosephosphate isomerase expression in mouse brain capillary endothelial cells

1 reference

12 December 2020

Interfering with glycolysis causes Sir2-dependent hyper-recombination of Saccharomyces cerevisiae plasmids

1 reference

12 December 2020

Transaldolase deficiency in two new patients with a relative mild phenotype

1 reference

12 December 2020

Triosephosphate isomerase deficiency: historical perspectives and molecular aspects

1 reference

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

Introducing sense into nonsense in treatments of human genetic diseases

1 reference

12 December 2020

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

1 reference

12 December 2020

Sequencing and genotypic analysis of the triosephosphate isomerase (TPI1) locus in a large sample of long-lived Germans

1 reference

12 December 2020

Natural mutation rates in the house mouse estimates for five specific loci and dominant mutations

1 reference

12 December 2020

10.1007/S00109-010-0634-1

Identifiers

DOI

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Dimensions Publication ID

30 July 2017

1045627656

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1 reference