(Q46814761)

English

Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene

scientific article published in April 2008

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene (English)

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

0 references

7

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

author name string

Mirjam M C Wamelink

1

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

Eduard A Struys

2

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

Erwin E W Jansen

3

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

Elena N Levtchenko

4

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

Fokje S M Zijlstra

5

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

Udo Engelke

6

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

Cornelis Jakobs

8

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

Ron A Wevers

9

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

publication date

1 April 2008

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

29

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

4

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

532-536

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

21 January 2018

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

https://api.crossref.org/works/10.1002%2FHUMU.20685

21 January 2018

Comparison of cystine determination in mixed leukocytes vs polymorphonuclear leukocytes for diagnosis of cystinosis and monitoring of cysteamine therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

21 January 2018

Development of Fanconi syndrome during infancy in a patient with cystinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

21 January 2018

The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

21 January 2018

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

21 January 2018

Distal vacuolar myopathy in nephropathic cystinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

7 January 2021

based on heuristic

inferred from DOI database lookup

Complications of nephropathic cystinosis after renal failure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

7 January 2021

based on heuristic

inferred from DOI database lookup

The molecular basis of Dutch infantile nephropathic cystinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

7 January 2021

based on heuristic

inferred from DOI database lookup

Enzymatic phosphorylation of D-sedoheptulose with animal liver.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

7 January 2021

based on heuristic

inferred from DOI database lookup

Medullary nephrocalcinosis in nephropathic cystinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20685

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20685

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18186520

ResearchGate publication ID

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