Lista de obras -

"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial

artículo científico publicado en 2011

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

artículo científico publicado en 2018

An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease

artículo científico publicado en 2012

Assessment of plasma acylcarnitines before and after weight loss in obese subjects.

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients

artículo científico publicado en 2016

Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention

artículo científico publicado en 2003

Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease

artículo científico publicado en 2008

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

artículo científico publicado en 2011

Bone health in phenylketonuria: a systematic review and meta-analysis

artículo científico publicado en 2015

CCL18: a urinary marker of Gaucher cell burden in Gaucher patients

artículo científico publicado en 2006

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

scientific article published on 07 February 2020

Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.

artículo científico publicado en 2017

Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates

artículo científico publicado en 2009

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

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 Fabry disease

artículo científico publicado en 2013

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

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1.

artículo científico publicado en 2009

Dynamic changes in bone marrow adiposity during the menstrual cycle

scholarly article

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

artículo científico publicado en 2012

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

artículo científico publicado en 2008

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

artículo científico publicado en 2011

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 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

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

artículo científico publicado en 2004

Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose - response relationships

artículo científico publicado en 2009

Erratum to: Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

artículo científico publicado en 2013

Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease.

artículo científico publicado en 2014

Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

Fertility in adult women with classic galactosemia and primary ovarian insufficiency

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients

artículo científico publicado en 2004

Gaucher disease: a model disorder for biomarker discovery

artículo científico publicado en 2009

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

HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma

artículo científico publicado en 2007

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

artículo científico publicado en 2014

Hepatocellular carcinoma in Gaucher disease: an international case series.

artículo científico publicado en 2018

High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial

artículo científico publicado en 2010

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

artículo científico publicado en 2005

Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1beta levels in type 1 Gaucher disease

scientific article published on 14 April 2007

Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

artículo científico publicado en 2014

Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders ⬇️

artículo científico publicado en 2011

Liver fibrosis in type I Gaucher disease: magnetic resonance imaging, transient elastography and parameters of iron storage

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study.

artículo científico publicado en 2017

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

artículo científico publicado en 2012

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 treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start

artículo científico publicado en 2018

Low frequency maintenance therapy with imiglucerase in adult type I Gaucher disease: a prospective randomized controlled trial.

artículo científico publicado en 2007

Low-dose versus high-dose therapy for Gaucher disease: Goals and markers

artículo científico publicado en 2007

Lung Transplantation in Gaucher Disease: A Learning Lesson in Trying to Avoid Both Scylla and Charybdis.

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention

artículo científico publicado en 2003

Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study

artículo científico publicado en 2013

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.

artículo científico publicado en 2017

Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme.

artículo científico publicado en 2009

Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study.

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

Monitoring of Gaucher patients with a novel chitotriosidase assay

artículo científico publicado en 2007

Mucolipidosis type III, a series of adult patients

artículo científico publicado en 2018

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

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

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey

artículo científico publicado en 2014

Parkinsonism in phenylketonuria: a consequence of dopamine depletion?

artículo científico publicado en 2015

Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy

artículo científico publicado en 2008

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 and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans.

artículo científico publicado en 2012

Plasma chitotriosidase and CCL18 as surrogate markers for granulomatous macrophages in sarcoidosis

artículo científico publicado en 2009

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

artículo científico publicado en 2015

Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease.

artículo científico publicado en 2004

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

Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease

artículo científico publicado en 2020

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

artículo científico publicado en 2012

Prevalence of type 1 Gaucher disease in the United States

scientific article published on 01 February 2008

Prominent increase in plasma ganglioside GM3 is associated with clinical manifestations of type I Gaucher disease

artículo científico publicado en 2007

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

Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease

artículo científico publicado en 2007

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

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

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

artículo científico publicado en 2017

Short-Term Effect of Estrogen on Human Bone Marrow Fat.

artículo científico publicado en 2015

Slowly Progressive Psychiatric Symptoms: Think Metachromatic Leukodystrophy

artículo científico publicado en 2018

Small fiber neuropathy in Fabry disease

artículo científico

Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

artículo científico publicado en 2016

Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study

artículo científico publicado en 2010

Substrate reduction therapy of glycosphingolipid storage disorders.

artículo científico publicado en 2006

Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis

scientific article published on 09 March 2006

The attenuated/late onset lysosomal storage disorders: Therapeutic goals and indications for enzyme replacement treatment in Gaucher and Fabry disease

artículo científico

The cognitive profile of type 1 Gaucher disease patients

artículo científico publicado en 2012

The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation

artículo científico publicado en 2010

The impact of altered carnitine availability on acylcarnitine metabolism, energy expenditure and glucose tolerance in diet-induced obese mice.

artículo científico publicado en 2016

The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

scientific article published on 07 July 2018

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

artículo científico publicado en 2011

The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease

artículo científico publicado en 2010

Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.

artículo científico publicado en 2008

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

Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance

artículo científico publicado en 2007

Ultrasensitive in situ visualization of active glucocerebrosidase molecules

scientific article published on 31 October 2010

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

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

scientific article published on 06 August 2012

Very low serum adiponectin levels in patients with type 1 Gaucher disease without overt hyperglycemia

scientific article published on 01 March 2007

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

"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial

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

An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease

Assessment of plasma acylcarnitines before and after weight loss in obese subjects.

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

Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients

Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention

Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease

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

Bone health in phenylketonuria: a systematic review and meta-analysis

CCL18: a urinary marker of Gaucher cell burden in Gaucher patients

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

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

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

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.

Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates

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

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 Fabry disease

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

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

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1.

Dynamic changes in bone marrow adiposity during the menstrual cycle

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

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

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

Enzyme replacement and substrate reduction therapy for Gaucher disease

Enzyme replacement and substrate reduction therapy for Gaucher disease

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

Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose - response relationships

Erratum to: Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease.

Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study

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

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.

Fertility in adult women with classic galactosemia and primary ovarian insufficiency

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

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients

Gaucher disease: a model disorder for biomarker discovery

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

HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma

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

Hepatocellular carcinoma in Gaucher disease: an international case series.

High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial

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

Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications

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

Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa

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

Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1beta levels in type 1 Gaucher disease

Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders ⬇️

Liver fibrosis in type I Gaucher disease: magnetic resonance imaging, transient elastography and parameters of iron storage

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

Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study.

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

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 treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start

Low frequency maintenance therapy with imiglucerase in adult type I Gaucher disease: a prospective randomized controlled trial.

Low-dose versus high-dose therapy for Gaucher disease: Goals and markers

Lung Transplantation in Gaucher Disease: A Learning Lesson in Trying to Avoid Both Scylla and Charybdis.

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

Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention

Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.

Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme.

Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study.

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

Monitoring of Gaucher patients with a novel chitotriosidase assay

Mucolipidosis type III, a series of adult patients

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.