Fabry disease: guidelines for the evaluation and management of multi-organ system involvement (Q36596408)

15 August 2017

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title

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

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15 August 2017

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Dominique P Germain

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Robert J Hopkin

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David G Warnock

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15 August 2017

Gregory M Pastores

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15 August 2017

Christoph Wanner

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15 August 2017

Christine M Eng

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15 August 2017

Maryam Banikazemi

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15 August 2017

Jan Bultas

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15 August 2017

Philip Lee

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15 August 2017

Katherine Sims

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15 August 2017

Scott E Brodie

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15 August 2017

Joerg M Strotmann

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15 August 2017

William R Wilcox

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15 August 2017

language of work or name

English

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publication date

1 September 2006

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15 August 2017

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15 August 2017

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15 August 2017

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15 August 2017

page(s)

539-548

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Nucleotide sequence of the human alpha-galactosidase A gene

15 August 2017

cites work

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Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme

21 January 2018

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

21 January 2018

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Advances in the management of Anderson-Fabry disease: enzyme replacement therapy

21 January 2018

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Fabry disease: recent advances in enzyme replacement therapy

21 January 2018

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Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval

21 January 2018

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Fabry disease: diagnosis and management, with emphasis on the renal manifestations

21 January 2018

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The heart in Anderson Fabry disease

21 January 2018

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Renal pathological changes in Fabry disease.

21 January 2018

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

21 January 2018

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

21 January 2018

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Early renal changes in hemizygous and heterozygous patients with Fabry's disease

21 January 2018

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21 January 2018

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Multifactorial intervention and cardiovascular disease in patients with type 2 diabetes

21 January 2018

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Clinical practice. Nephropathy in patients with type 2 diabetes

21 January 2018

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

21 January 2018

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

21 January 2018

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Patients with Fabry disease on dialysis in the United States

21 January 2018

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

21 January 2018

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Raised HDL cholesterol in Fabry disease: response to enzyme replacement therapy

21 January 2018

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Adverse effects of beta-blocker therapy for patients with heart failure: a quantitative overview of randomized trials

21 January 2018

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Anderson-Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain

21 January 2018

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Stroke in Fabry's disease

21 January 2018

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Cerebrovascular complications of Fabry's disease

21 January 2018

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CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy

21 January 2018

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The Vascular Dementia of Fabry's Disease

21 January 2018

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Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options

21 January 2018

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Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease

21 January 2018

1 reference

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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

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Neurological manifestations of fabry disease in female carriers

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

Pediatric Fabry disease

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

21 January 2018

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Cardiopulmonary exercise testing in Fabry disease

21 January 2018

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Induced sputum examination: diagnosis of pulmonary involvement in Fabry's disease

21 January 2018

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The ultrastructural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis

21 January 2018

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Angiokeratomas: an update

21 January 2018

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Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies

21 January 2018

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

21 January 2018

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Fabry disease: recognition and management of cutaneous manifestations

21 January 2018

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Central Retinal Artery Occlusion Complicating Fabry's Disease

21 January 2018

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The Ocular Manifestations in Fabry's Disease

21 January 2018

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Central retinal artery occlusion in a patient with Fabry's disease documented by scanning laser ophthalmoscopy

21 January 2018

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Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients

21 January 2018

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Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

21 January 2018

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Enzyme replacement therapy in Fabry disease: a randomized controlled trial

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta

21 January 2018

1 reference

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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/10.1097%2F01.GIM.0000237866.70357.C6

Fabry disease: overall effects of agalsidase alfa treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237866.70357.C6

Small fiber dysfunction predominates in Fabry neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237866.70357.C6

New insights in cardiac structural changes in patients with Fabry’s disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237866.70357.C6

10.1097/01.GIM.0000237866.70357.C6

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

15 August 2017

1020669236

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1 reference