Lista de obras -

Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history

artículo científico publicado en 2016

Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry

artículo científico publicado en 2011

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

artículo científico publicado en 2011

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

Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients

artículo científico publicado en 2011

Cost-effectiveness of enzyme replacement therapy for Fabry disease

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

artículo científico publicado en 2008

Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results

scientific article published on 01 May 2008

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

artículo científico publicado en 2004

Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT).

artículo científico publicado en 2010

Fabry disease: a rare cause of neuropathic pain

artículo científico

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

artículo científico publicado en 2009

Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening

artículo científico publicado en 2013

Global warming could affect outpatient attendance

artículo científico publicado en 2008

Green urine, but no infection

artículo científico publicado en 2009

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

artículo científico publicado en 2014

High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

artículo científico publicado en 2014

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

artículo científico publicado en 2005

Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life

artículo científico publicado en 2011

Letter concerning "Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha", by Tanaka et al.

artículo científico publicado en 2010

Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain

artículo científico publicado en 2013

Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome

artículo científico publicado en 2012

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

artículo científico publicado en 2004

Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages

artículo científico publicado en 2014

Novel therapeutic targets for the treatment of Fabry disease.

artículo científico publicado en 2007

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

artículo científico publicado en 2015

Plasma thrombopoietin levels in patients with chronic renal failure

artículo científico publicado en 2002

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

Prevalence of symptoms in female Fabry disease patients: a case-control survey

artículo científico publicado en 2012

Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry

artículo científico publicado en 2010

Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry

artículo científico publicado en 2012

Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA.

artículo científico publicado en 2002

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

Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage

artículo científico publicado en 2012

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

artículo científico publicado en 2010

Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation

artículo científico publicado en 2011

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

artículo científico publicado en 2015

The 'interesting case' and patient privacy: handling patient data in medical education

artículo científico publicado en 2015

The majority of bold statements expressed during grand rounds lack scientific merit.

artículo científico publicado en 2007

The role of antibodies in enzyme treatments and therapeutic strategies

artículo científico

Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg

artículo científico publicado en 2007

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

Uremic thrombocytopathy is not about urea

artículo científico publicado en 2010

Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine

scientific article published on 06 August 2012

alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease.

artículo científico publicado en 2003

Lista de obras de

Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history

Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

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

Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients

Cost-effectiveness of enzyme replacement therapy for Fabry disease

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

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results

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

Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT).

Fabry disease: a rare cause of neuropathic pain

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

Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening

Global warming could affect outpatient attendance

Green urine, but no infection

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

High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

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

Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life

Letter concerning "Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha", by Tanaka et al.

Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain

Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome

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

Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages

Novel therapeutic targets for the treatment of Fabry disease.

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

Plasma thrombopoietin levels in patients with chronic renal failure

Poikilothermia in a 38-year-old Fabry patient

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

Prevalence of symptoms in female Fabry disease patients: a case-control survey

Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry

Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry

Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA.

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

Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

The 'interesting case' and patient privacy: handling patient data in medical education

The majority of bold statements expressed during grand rounds lack scientific merit.

The role of antibodies in enzyme treatments and therapeutic strategies

Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg

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

Uremic thrombocytopathy is not about urea

Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine

alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease.