(Q53168010)

12 May 2018

title

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

1 reference

12 May 2018

1 reference

2

1 reference

12 May 2018

Robert J. Hopkin

3

1 reference

12 May 2018

Dominique P Germain

Dominique P Germain

18

0 references

Alberto Ortiz

Alberto Ortiz

4

0 references

David G Warnock

16

David G Warnock

1 reference

12 May 2018

Ulla Feldt-Rasmussen

6

Ulla Feldt-Rasmussen

1 reference

12 May 2018

author name string

William R Wilcox

1

1 reference

12 May 2018

Maryam Banikazemi

5

1 reference

12 May 2018

Katherine Sims

7

1 reference

12 May 2018

Stephen Waldek

8

1 reference

12 May 2018

Gregory M Pastores

9

1 reference

12 May 2018

Philip Lee

10

1 reference

12 May 2018

Christine M Eng

11

1 reference

12 May 2018

Laszlo Marodi

12

1 reference

12 May 2018

Kevin E Stanford

13

1 reference

12 May 2018

Frank Breunig

14

1 reference

12 May 2018

Christoph Wanner

15

1 reference

12 May 2018

Roberta M Lemay

17

1 reference

12 May 2018

Fabry Registry

19

1 reference

12 May 2018

publication date

26 November 2007

1 reference

12 May 2018

Molecular Genetics and Metabolism

published in

1 reference

12 May 2018

volume

93

1 reference

12 May 2018

issue

2

1 reference

12 May 2018

page(s)

112-128

1 reference

12 May 2018

Enzymatic Defect in Fabry's Disease

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

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.2007.09.013

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Small fiber dysfunction predominates in Fabry neuropathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Postischemic cutaneous hyperperfusion in the presence of forearm hypoperfusion suggests sympathetic vasomotor dysfunction in Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Chronic airflow obstruction in Fabry's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Pulmonary involvement in Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Cardiopulmonary exercise testing in Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

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.2007.09.013

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.2007.09.013

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.2007.09.013

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

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.2007.09.013

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

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.2007.09.013

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.2007.09.013

Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

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.2007.09.013

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Prevalence of lysosomal storage disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

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.2007.09.013

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

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.2007.09.013

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.2007.09.013

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.2007.09.013

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.2007.09.013

Fabry disease: overall effects of agalsidase alfa treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

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.2007.09.013

Quality of life of patients with Fabry disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Relationship between patient and disease characteristics, and health-related quality of life in adults with asthma.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Medical outcomes study short form-36: a consistent and powerful predictor of morbidity and mortality in dialysis patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease Study Group

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Assessing kidney function--measured and estimated glomerular filtration rate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

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.2007.09.013

7 January 2021

Pediatric Fabry disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

The heart in Anderson Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Cardiac manifestations of Anderson-Fabry disease in heterozygous females

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Gender, age, society, culture, and the patient's perspective in the functional gastrointestinal disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Methods for validating and norming translations of health status questionnaires: the IQOLA Project approach. International Quality of Life Assessment.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

Cross-cultural comparisons of the content of SF-36 translations across 10 countries: results from the IQOLA Project. International Quality of Life Assessment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

The factor structure of the SF-36 Health Survey in 10 countries: results from the IQOLA Project. International Quality of Life Assessment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.013

10.1016/J.YMGME.2007.09.013

7 January 2021

Identifiers

DOI

1 reference

12 May 2018

1 reference

12 May 2018