(Q34087922)

30 July 2017

Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke (English)

1 reference

30 July 2017

1 reference

2

Steven J Kittner

1 reference

30 July 2017

11

Robert J Desnick

1 reference

30 July 2017

Marcella A Wozniak

1

1 reference

30 July 2017

Stanley Tuhrim

3

1 reference

30 July 2017

John W Cole

4

1 reference

30 July 2017

Barney Stern

5

1 reference

30 July 2017

Mark Dobbins

6

1 reference

30 July 2017

Marie E Grace

7

1 reference

30 July 2017

Irina Nazarenko

8

1 reference

30 July 2017

Robert Dobrovolny

9

1 reference

30 July 2017

Eric McDade

10

1 reference

30 July 2017

language of work or name

English

0 references

publication date

10 December 2009

1 reference

30 July 2017

1 reference

30 July 2017

41

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30 July 2017

1

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30 July 2017

78-81

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

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564050

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564050

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564050

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564050

Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564050

Interrater reliability of an etiologic classification of ischemic stroke.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564050

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564050

Detection of subclinical fabry disease in patients presenting with hypertrophic cardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564050

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564050

Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564050

Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564050

Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564050

Significance of screening for Fabry disease among male dialysis patients

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564050

Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment

28 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

1 reference

12 December 2020

Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma

1 reference

12 December 2020

Results of a nationwide screening for Anderson-Fabry disease among dialysis patients

1 reference

12 December 2020

Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes

1 reference

12 December 2020

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

1 reference

12 December 2020

An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy

1 reference

12 December 2020

Cerebral infarction in young adults: the Baltimore-Washington Cooperative Young Stroke Study

1 reference

12 December 2020

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial

1 reference

12 December 2020

Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy

1 reference

12 December 2020

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype

1 reference

12 December 2020

10.1161/STROKEAHA.109.558320

Identifiers

DOI

1 reference

release_cvrlchqu6fer3abjgwd4x4cnru

30 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/cvrlchqu6fer3abjgwd4x4cnru

24 November 2022

mapped directly with Wikidata item

PMCID

3564050

1 reference

30 July 2017

1 reference