(Q41861331)

13 October 2017

Is it or is it not a pathogenic mutation? Is it or is it not the podocyte? (English)

1 reference

Maria Dolores Sanchez-niño

13 October 2017

object named as

Maria Dolores Sanchez-Niño

series ordinal

1

0 references

Alberto Ortiz

object named as

Alberto Ortiz

series ordinal

2

0 references

publication date

1 October 2012

1 reference

Journal of nephropathology

13 October 2017

1 reference

13 October 2017

1

1 reference

13 October 2017

3

1 reference

13 October 2017

152-154

1 reference

A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3886152

Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3886152

Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3886152

Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3886152

End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3886152

The MIF receptor CD74 in diabetic podocyte injury

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3886152

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3886152

High incidence of later-onset fabry disease revealed by newborn screening

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3886152

Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3886152

Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3886152

Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3886152

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3886152

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3886152

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype

3 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24475406

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.5812/NEPHROPATHOL.8110

1 reference

13 October 2017

1 reference

13 October 2017

1 reference

PMCID

3886152