(Q21202889)

PubMed publication ID

19818152

Orphanet Journal of Rare Diseases

11 July 2022

language of work or name

English

0 references

publication date

11 October 2009

7 references

22 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

25 July 2020

15 August 2020

7 references

22 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

25 July 2020

15 August 2020

4

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issue

1

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page(s)

21

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copyright license

Creative Commons Attribution 2.0 Generic

7 references

22 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

25 July 2020

on focus list of Wikimedia project

15 August 2020

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Agalsidase alfa slows the decline in renal function in patients with Fabry disease.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Myofilament degradation and dysfunction of human cardiomyocytes in Fabry disease.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Prevalence of lysosomal storage disorders

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Downregulation of alpha-galactosidase A upregulates CD77: functional impact for Fabry nephropathy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Apoptosis induced in Burkitt's lymphoma cells via Gb3/CD77, a glycolipid antigen.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Heart valve involvement in Fabry cardiomyopathy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Intravascular ultrasound assessment of coronary artery involvement in Fabry disease

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Right ventricular involvement in Fabry disease.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Clinical usefulness of tissue Doppler imaging in predicting preclinical Fabry cardiomyopathy.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Cardiovascular testing in Fabry disease: exercise capacity reduction, chronotropic incompetence and improved anaerobic threshold after enzyme replacement

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Onset and progression of the Anderson-Fabry disease related cardiomyopathy.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Detection of a characteristic painful neuropathy in Fabry disease: a pilot study.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Anderson-Fabry disease: long-term echocardiographic follow-up under enzyme replacement therapy

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Cardiac manifestations of Anderson-Fabry disease in children and adolescents

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Depression in adults with Fabry disease: a common and under-diagnosed problem.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Patients with Fabry disease on dialysis in the United States

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768700

Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy

29 November 2018

1 reference

12 December 2020

Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report

1 reference

12 December 2020

Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria

1 reference

12 December 2020

Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease

1 reference

12 December 2020

Leukocyte perturbation associated with Fabry disease

1 reference

12 December 2020

Clinical manifestation in female Fabry disease patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease

1 reference

12 December 2020

Enzymatic Defect in Fabry's Disease

1 reference

12 December 2020

An association study of inflammatory cytokine gene polymorphisms in Fabry disease

1 reference

12 December 2020

Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa

1 reference

12 December 2020

Correlation between interleukin-6 promoter and C-reactive protein (CRP) polymorphisms and CRP levels with the Mainz Severity Score Index for Fabry disease

1 reference

12 December 2020

Newborn screening in Fabry disease: what can be achieved with early diagnosis?

1 reference

12 December 2020

Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria

1 reference

12 December 2020

Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results

1 reference

12 December 2020