Age adjusting severity scores for Anderson-Fabry disease (Q44200987)

30 November 2017

Age adjusting severity scores for Anderson-Fabry disease (English)

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30 November 2017

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D A Hughes

1

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30 November 2017

U Ramaswami

2

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30 November 2017

M-Á Barba Romero

3

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30 November 2017

P Deegan

4

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30 November 2017

FOS Investigators

5

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30 November 2017

22 June 2010

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Molecular Genetics and Metabolism

30 November 2017

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30 November 2017

101

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30 November 2017

2-3

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30 November 2017

219-227

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Fabry's Disease: Alpha-Galactosidase Deficiency

30 November 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

7 January 2021

Pediatric Fabry disease

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

Newborn screening for lysosomal storage disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

An atypical variant of Fabry's disease in men with left ventricular hypertrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

Fabry disease: overall effects of agalsidase alfa treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

Effect of enzyme-replacement therapy on gastrointestinal symptoms in Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

Relief of gastrointestinal symptoms under enzyme replacement therapy [corrected] in patients with Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

Enzyme replacement therapy with agalsidase alfa in children with Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

A systematic review of the clinical effectiveness and cost-effectiveness of enzyme replacement therapies for Fabry's disease and mucopolysaccharidosis type 1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

Early therapeutic intervention in females with Fabry disease?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

A validated disease severity scoring system for Fabry disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.002

10.1016/J.YMGME.2010.06.002

7 January 2021

Identifiers

DOI

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30 November 2017

1 reference