(Q46085216)

19 December 2017

editorial

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review article

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title

Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations (English)

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19 December 2017

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João Paulo Oliveira

3

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Alberto Ortiz

object named as

Alberto Ortiz

4

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David G Warnock

9

object named as

David G Warnock

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19 December 2017

Einar Svarstad

6

object named as

Einar Svarstad

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19 December 2017

author name string

Björn Oqvist

1

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19 December 2017

Barry M Brenner

2

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19 December 2017

Roland Schaefer

5

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19 December 2017

Christoph Wanner

7

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19 December 2017

Kate Zhang

8

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19 December 2017

language of work or name

English

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publication date

16 March 2009

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19 December 2017

Nephrology Dialysis Transplantation

published in

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19 December 2017

volume

24

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19 December 2017

issue

6

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19 December 2017

page(s)

1736-1743

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19 December 2017

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry

cites work

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Natural history of Fabry disease in females in the Fabry Outcome Survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Diagnosis of Fabry disease via analysis of family history

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Report on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Patients with Fabry disease on dialysis in the United States

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Implementation of high-throughput screening for Fabry disease in Toronto dialysis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Significance of screening for Fabry disease among male dialysis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Results of an ophthalmologic screening programme for identification of cases with Anderson-Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFP105

21 January 2018

Identifiers

DOI

10.1093/NDT/GFP105

1 reference

19 December 2017

release_2iujzsf3hfbnvjovg4awzeho7y

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2iujzsf3hfbnvjovg4awzeho7y

mapped directly with Wikidata item

24 November 2022

based on heuristic

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19 December 2017