Lista de obras -

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

artículo científico publicado en 2015

A randomised controlled trial evaluating arrhythmia burden, risk of sudden cardiac death and stroke in patients with Fabry disease: the role of implantable loop recorders (RaILRoAD) compared with current standard practice.

artículo científico publicado en 2019

Biomarkers for osteonecrosis in Gaucher disease

artículo científico publicado en 2011

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

artículo científico publicado en 2017

Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years

artículo científico publicado en 2012

Clinical Features of Lysosomal Acid Lipase Deficiency

artículo científico publicado en 2015

Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease

artículo científico publicado en 2013

Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease

scientific article published on 01 September 2005

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS).

artículo científico publicado en 2017

Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes

artículo científico publicado en 2012

Enzyme replacement and substrate reduction therapy for Gaucher disease

artículo científico publicado en 2015

Enzyme replacement and substrate reduction therapy for Gaucher disease

artículo científico publicado en 2013

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians

artículo científico

Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease ⬇️

artículo científico publicado el 7 de febrero de 2012

Fabry disease, enzyme replacement therapy and the significance of antibody responses

artículo científico publicado en 2011

Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease

artículo científico publicado en 2009

Gaucher disease: improving management

artículo científico publicado en 2008

Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease

scientific article published on 01 March 2010

Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom.

artículo científico publicado en 2018

Imiglucerase in the treatment of Gaucher disease: a history and perspective

artículo científico publicado en 2012

Life expectancy in Gaucher disease type 1

artículo científico publicado en 2008

Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.

artículo científico publicado en 2012

Novel pathogenic mutations in the glucocerebrosidase locus

artículo científico publicado en 2012

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

artículo científico publicado en 2016

Orthotopic liver transplantation in an adult with cholesterol ester storage disease.

artículo científico publicado en 2012

Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy

artículo científico publicado en 2011

Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data.

artículo científico publicado en 2017

Potential biomarkers of osteonecrosis in Gaucher disease

artículo científico publicado en 2010

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

Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey

artículo científico publicado en 2016

Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome Survey.

artículo científico publicado en 2011

Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency

artículo científico publicado en 2014

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

artículo científico publicado en 2012

The motor and cognitive features of Parkinson's disease in patients with concurrent Gaucher disease over 2 years: a case series.

artículo científico publicado en 2018

The need for disease-specific patient-reported outcome measures for lysosomal disorders

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

artículo científico publicado en 2005

Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis

artículo científico publicado en 2009

Warfarin-induced calciphylaxis successfully treated with sodium thiosulphate

artículo científico publicado en 2012

Lista de obras de

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

A randomised controlled trial evaluating arrhythmia burden, risk of sudden cardiac death and stroke in patients with Fabry disease: the role of implantable loop recorders (RaILRoAD) compared with current standard practice.

Biomarkers for osteonecrosis in Gaucher disease

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years

Clinical Features of Lysosomal Acid Lipase Deficiency

Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease

Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS).

Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes

Enzyme replacement and substrate reduction therapy for Gaucher disease

Enzyme replacement and substrate reduction therapy for Gaucher disease

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians

Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease ⬇️

Fabry disease, enzyme replacement therapy and the significance of antibody responses

Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease

Gaucher disease: improving management

Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease

Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom.

Imiglucerase in the treatment of Gaucher disease: a history and perspective

Life expectancy in Gaucher disease type 1

Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.

Novel pathogenic mutations in the glucocerebrosidase locus

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Orthotopic liver transplantation in an adult with cholesterol ester storage disease.

Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy

Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data.

Potential biomarkers of osteonecrosis in Gaucher disease

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

Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey

Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome Survey.

Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

The motor and cognitive features of Parkinson's disease in patients with concurrent Gaucher disease over 2 years: a case series.

The need for disease-specific patient-reported outcome measures for lysosomal disorders

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis

Warfarin-induced calciphylaxis successfully treated with sodium thiosulphate