(Q24533366)

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

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scholarly article

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24 November 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14988808%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Ribose-5-phosphate isomerase deficiency

0 references

Ribose 5-phosphate isomerase A

1 reference

GOA release 2020-03-11

ribose-5-phosphate isomerase activity

1 reference

GOA release 2020-03-11

1

1 reference

Europe PubMed Central

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24 November 2019

author name string

Nanda M Verhoeven

2

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24 November 2019

Eduard A Struys

3

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24 November 2019

Gajja S Salomons

4

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24 November 2019

Cornelis Jakobs

5

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24 November 2019

Marjo S van der Knaap

6

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24 November 2019

language of work or name

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publication date

25 February 2004

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24 November 2019

American Journal of Human Genetics

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24 November 2019

74

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24 November 2019

745-751

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24 November 2019

4

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24 November 2019

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

24 March 2017

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

24 March 2017

The ribose 5-phosphate isomerase-encoding gene is located immediately downstream from that encoding murine immunoglobulin kappa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

24 March 2017

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

24 March 2017

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

24 March 2017

In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

27 September 2017

Sorbitol and myo-inositol levels and morphology of sural nerve in relation to peripheral nerve function and clinical neuropathy in men with diabetic, impaired, and normal glucose tolerance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

27 September 2017

Leukoencephalopathy associated with a disturbance in the metabolism of polyols

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

27 September 2017

The role of polyols in the pathophysiology of hypergalactosemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

27 September 2017

Mechanisms initiating cataract formation. Proctor Lecture.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

27 September 2017

Are disturbances of sorbitol, phosphoinositide, and Na+-K+-ATPase regulation involved in pathogenesis of diabetic neuropathy?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

27 September 2017

Capillary gas chromatography combined with ion trap detection for quantitative profiling of polyols in cerebrospinal fluid and plasma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

30 May 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

29 November 2018

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

29 November 2018

A new leukoencephalopathy with vanishing white matter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

29 November 2018

Childhood ataxia with diffuse central nervous system hypomyelination.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

29 November 2018

Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181951

29 November 2018

Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy

1 reference

https://pubmed.ncbi.nlm.nih.gov/14988808

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polyol pathway activity in nervous tissues of diabetic and galactose-fed rats: effect of dietary galactose withdrawal or tolrestat intervention therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/14988808

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disorders of the cerebral white matter in children. The spectrum of lesions

1 reference

https://pubmed.ncbi.nlm.nih.gov/14988808

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

1 reference

https://pubmed.ncbi.nlm.nih.gov/14988808

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative analysis of polyols in human plasma and cerebrospinal fluid

1 reference

https://pubmed.ncbi.nlm.nih.gov/14988808

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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2 references

Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

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24 November 2019

release_h6gjufkszbc2lj3kfw5tdnjmba

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14988808%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14988808%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

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