(Q37775790)

23 August 2017

1 reference

title

Fabry disease: a review of current management strategies (English)

1 reference

23 August 2017

1 reference

A Mehta

1

1 reference

23 August 2017

M Beck

2

1 reference

23 August 2017

F Eyskens

3

1 reference

23 August 2017

C Feliciani

4

1 reference

23 August 2017

I Kantola

5

1 reference

23 August 2017

U Ramaswami

6

1 reference

23 August 2017

A Rolfs

7

1 reference

23 August 2017

A Rivera

8

1 reference

23 August 2017

S Waldek

9

1 reference

23 August 2017

D P Germain

10

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23 August 2017

language of work or name

English

0 references

publication date

21 July 2010

1 reference

QJM: An International Journal of Medicine

23 August 2017

1 reference

23 August 2017

103

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23 August 2017

641-659

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23 August 2017

9

1 reference

Prevalence of lysosomal storage disorders

23 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Prevalence of lysosomal storage diseases in Portugal

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Persistent neuro-inflammation in cerebral palsy: a therapeutic window of opportunity?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Clinical presentation in female patients with Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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%2FQJMED%2FHCQ117

Gene action in the X-chromosome of the mouse (Mus musculus L.)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Quality of life of patients with Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Fabry disease: overall effects of agalsidase alfa treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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%2FQJMED%2FHCQ117

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Agalsidase alpha and hearing in Fabry disease: data from the Fabry Outcome Survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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%2FQJMED%2FHCQ117

New developments in the management of Anderson-Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Enzyme replacement therapy for Fabry disease: a systematic review of available evidence

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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%2FQJMED%2FHCQ117

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%2FQJMED%2FHCQ117

Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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%2FQJMED%2FHCQ117

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%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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%2FQJMED%2FHCQ117

Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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%2FQJMED%2FHCQ117

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%2FQJMED%2FHCQ117

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Cardiac manifestations of Anderson-Fabry disease in children and adolescents

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Cerebrovascular complications of Fabry's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Stroke in Fabry's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

The pulvinar sign: frequency and clinical correlations in Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Fabry disease: recognition and management of cutaneous manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Fabry disease and the skin: data from FOS, the Fabry outcome survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Three-dimensional face shape in Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Hearing loss in Fabry disease: data from the Fabry Outcome Survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Cardiopulmonary exercise testing in Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Natural history of the respiratory involvement in Anderson-Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Anemia is a new complication in Fabry disease: data from the Fabry Outcome Survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Agalsidase alfa--a preparation for enzyme replacement therapy in Anderson-Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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%2FQJMED%2FHCQ117

Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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%2FQJMED%2FHCQ117

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Agalsidase alfa and kidney dysfunction in Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Home-based infusion therapy for patients with Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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%2FQJMED%2FHCQ117

Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

The heart in Anderson-Fabry disease and other lysosomal storage disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Use of gabapentin to reduce chronic neuropathic pain in Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FQJMED%2FHCQ117

21 January 2018

Identifiers

DOI

10.1093/QJMED/HCQ117

1 reference

23 August 2017

1 reference