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Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

Journal of the American Society of Nephrology, 2017-05, Vol.28 (5), p.1631-1641

2017

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Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

Journal of medical genetics, 2015-04, Vol.52 (4), p.262-268

2015

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Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors

PloS one, 2017-08, Vol.12 (8), p.e0182379

2017

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Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study

Journal of medical genetics, 2018-05, Vol.55 (5), p.351-358

2018

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Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature

British journal of haematology, 2013-06, Vol.161 (6), p.832-842

2013

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Oncologic orphan drugs approved in the EU - do clinical trial data correspond with real-world effectiveness?

Orphanet journal of rare diseases, 2018-11, Vol.13 (1), p.214-214, Article 214

2018

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Fabry Disease: A Rare Cause of Neuropathic Pain

Current pain and headache reports, 2013-10, Vol.17 (10), p.365-365, Article 365

2013

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Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests

BMC neurology, 2010-06, Vol.10 (1), p.38-38, Article 38

2010

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Quality of life in patients with Fabry disease: a systematic review of the literature

Orphanet journal of rare diseases, 2015-06, Vol.10 (1), p.77-77, Article 77

2015

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Consensus recommendations on initiation and cessation of enzyme replacement therapy in patients with Fabry disease

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S23-S23

2015

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Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

Orphanet journal of rare diseases, 2015-03, Vol.10 (1), p.36-36, Article 36

2015

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Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study

Journal of inherited metabolic disease, 2018-01, Vol.41 (1), p.141-149

2018

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Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease

Molecular genetics and metabolism, 2017-06, Vol.121 (2), p.157-161

2017

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Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review

British Journal of Ophthalmology, 2016-01, Vol.100 (1), p.3-8

2016

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Post-authorisation assessment of orphan drugs

The Lancet (British edition), 2015-11, Vol.386 (10007), p.1940-1941

2015

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Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.194-198

2016

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Looking beyond the realm of traditional genetics: DNA methylation differences in discordant Gaucher disease twins

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S63-S63

2017

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Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease

Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.51-51, Article 51

2014

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Small fiber neuropathy in Fabry disease

Molecular genetics and metabolism, 2012-06, Vol.106 (2), p.135-141

2012

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Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.242-247

2015

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Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications

Orphanet journal of rare diseases, 2014-07, Vol.9 (1), p.112-112, Article 112

2014

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Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study

Brain (London, England : 1878), 2010-10, Vol.133 (10), p.2909-2919

2010

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Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy

Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.351-358

2015

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Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: An international cohort study

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S64-S65

2018

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Malignancies and monoclonal gammopathy in G aucher disease; a systematic review of the literature

British journal of haematology, 2013-06, Vol.161 (6), p.832-842

2013

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Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study

Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature

Oncologic orphan drugs approved in the EU - do clinical trial data correspond with real-world effectiveness?

Fabry Disease: A Rare Cause of Neuropathic Pain

Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests

Quality of life in patients with Fabry disease: a systematic review of the literature

Consensus recommendations on initiation and cessation of enzyme replacement therapy in patients with Fabry disease

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study

Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease

Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review

Post-authorisation assessment of orphan drugs

Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort

Looking beyond the realm of traditional genetics: DNA methylation differences in discordant Gaucher disease twins

Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease

Small fiber neuropathy in Fabry disease

Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis

Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications

Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study

Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: An international cohort study

Malignancies and monoclonal gammopathy in G aucher disease; a systematic review of the literature

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