(Q35546663)

8 August 2017

title

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria (English)

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8 August 2017

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11

Mary-Claire King

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Michael J MacCoss

9

object named as

Michael J MacCoss

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8 August 2017

5

Sharon Zeligson

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8 August 2017

Sarah B Pierce

1

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8 August 2017

Cailyn H Spurrell

2

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8 August 2017

Jessica B Mandell

3

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8 August 2017

Ming K Lee

4

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8 August 2017

Michael S Bereman

6

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8 August 2017

Sunday M Stray

7

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8 August 2017

Siv Fokstuen

8

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8 August 2017

Arno G Motulsky

12

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8 August 2017

language of work or name

English

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publication date

31 October 2011

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Proceedings of the National Academy of Sciences of the United States of America

8 August 2017

published in

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8 August 2017

volume

108

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8 August 2017

issue

45

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8 August 2017

page(s)

18313-18317

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Advanced glycation end-products and the kidney

8 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

Multiple mutations responsible for frequent genetic diseases in isolated populations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

Transgenic mice over-expressing dicarbonyl/L-xylulose reductase gene crossed with KK-Ay diabetic model mice: an animal model for the metabolism of renal carbonyl compounds

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

Molecular characterization of mammalian dicarbonyl/L-xylulose reductase and its localization in kidney

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

Protein glycation, diabetes, and aging

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

The enzymatic defect in essential pentosuria

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

On the nature of L-xylulose reductase deficiency in essential pentosuria

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

End-stage renal disease and diabetes catalyze the formation of a pentose-derived crosslink from aging human collagen

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

Advanced glycosylation end products in patients with diabetic nephropathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

Suppression of renal alpha-dicarbonyl compounds generated following ureteral obstruction by kidney-specific alpha-dicarbonyl/L-xylulose reductase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

Structure of the tetrameric form of human L-Xylulose reductase: probing the inhibitor-binding site with molecular modeling and site-directed mutagenesis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

Crystal structure of human L-xylulose reductase holoenzyme: probing the role of Asn107 with site-directed mutagenesis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

L-xylulosuria in a Lebanese family

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3215002

Essential Pentosuria: Renal or Enzymic Disorder

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1115888108

Pentosuria in a North American Indian

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1115888108

Mechanisms for the formation of glycoxidation products in end-stage renal disease

21 January 2018

1 reference

12 December 2020

A Japanese case of pentosuria

1 reference

12 December 2020

Human L-xylulose reductase variation: family and population studies

1 reference

12 December 2020

Chloride attachment negative-ion mass spectra of sugars by combined liquid chromatography and atmospheric pressure chemical ionization mass spectrometry

1 reference

12 December 2020

1 reference

12 December 2020

Mortality of persons with xyloketosuria; a follow-up study of a rare metabolic anomaly

1 reference

12 December 2020

The diagnosis of the less common meliturias; including pentosuria and fructosuria

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1115888108

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8 August 2017

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8 August 2017

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