Lista de obras -

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

artículo científico publicado en 2016

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

artículo científico

Consensus recommendation on Fabry disease diagnosis in adult patients with kidney disease

article published in 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Fabry disease: a rare cause of neuropathic pain

artículo científico

FabryScan: a screening tool for early detection of Fabry disease

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

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

artículo científico publicado el 7 de agosto de 2010

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

artículo científico publicado en 2017

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

artículo científico publicado en 2015

Poikilothermia in a 38-year-old Fabry patient

artículo científico publicado en 2010

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

artículo científico publicado en 2016

Post-authorisation assessment of orphan drugs

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Small fiber neuropathy in Fabry disease

artículo científico

The cognitive profile of type 1 Gaucher disease patients

artículo científico publicado en 2012

The relation between small nerve fibre function, age, disease severity and pain in Fabry disease

artículo científico publicado en 2011

Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up

artículo científico publicado en 2014

Lista de obras de

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

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

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

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

Consensus recommendation on Fabry disease diagnosis in adult patients with kidney disease

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

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

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

Fabry disease: a rare cause of neuropathic pain

FabryScan: a screening tool for early detection of Fabry disease

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

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

In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease

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

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

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

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

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

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

Poikilothermia in a 38-year-old Fabry patient

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

Post-authorisation assessment of orphan drugs

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

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

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

Small fiber neuropathy in Fabry disease

The cognitive profile of type 1 Gaucher disease patients

The relation between small nerve fibre function, age, disease severity and pain in Fabry disease

Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up