Lista de obras -

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

artículo científico publicado en 2011

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

artículo científico publicado en 2015

A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing

artículo científico publicado en 2013

A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency

artículo científico publicado en 2010

Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model

artículo científico publicado en 2015

Altered interaction and distribution of glycosaminoglycans and growth factors in mucopolysaccharidosis type I bone disease

artículo científico publicado en 2016

An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life ⬇️

artículo científico publicado el 9 de julio de 2013

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

artículo científico publicado en 2010

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment ⬇️

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

artículo científico publicado en 2016

Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation

artículo científico publicado en 2008

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial

artículo científico publicado en 2015

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency

artículo científico publicado en 2010

Clinical utility gene card for: Mucopolysaccharidosis type II ⬇️

artículo científico publicado el 24 de agosto de 2011

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency

artículo científico publicado en 2006

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome).

artículo científico publicado en 2011

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

artículo científico publicado en 2013

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry ⬇️

artículo científico publicado el 11 de enero de 2012

Disease and patient characteristics in NP-C patients: findings from an international disease registry

artículo científico publicado en 2013

Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients

artículo científico publicado en 2010

Drug therapy of hypercholesterolaemia in children and adolescents

artículo científico publicado en 2012

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

artículo científico publicado en 2016

Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III.

artículo científico publicado en 2014

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 replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

artículo científico publicado en 2011

Extended metabolic evaluation of suspected symptomatic hypoglycemia: the prolonged fast and beyond

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency

artículo científico publicado en 2010

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

artículo científico publicado en 2015

Fatty acid oxidation in the human fetus: Implications for fetal and adult disease

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

Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency

artículo científico publicado en 2010

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

artículo científico publicado en 2009

Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models

artículo científico publicado en 2014

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

Identification of novel mutations in classical galactosemia

artículo científico publicado en 2005

Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency

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

Living with classical galactosemia: health-related quality of life consequences.

artículo científico publicado en 2004

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients ⬇️

artículo científico publicado el 1 de enero de 2002

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 statin treatment in children with familial hypercholesterolemia: more insight into tolerability and adherence

artículo científico publicado en 2015

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review

artículo científico publicado en 2002

Mitochondrial long chain fatty acid beta-oxidation in man and mouse

artículo científico publicado en 2009

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement

artículo científico publicado en 2003

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

artículo científico publicado en 2013

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations

artículo científico publicado en 2010

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype ⬇️

artículo científico publicado el 18 de septiembre de 2010

Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency ⬇️

artículo científico publicado el 31 de marzo de 2012

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life.

artículo científico publicado en 2011

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

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome

artículo científico publicado en 2003

Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.

artículo científico publicado en 2016

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

artículo científico publicado en 2014

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

artículo científico publicado en 2012

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

Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder ⬇️

artículo científico publicado el 1 de noviembre de 2003

Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome.

artículo científico publicado en 2015

Statin use during pregnancy: a systematic review and meta-analysis

artículo científico publicado en 2012

The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency

artículo científico publicado en 2015

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice

artículo científico publicado en 2005

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

artículo científico publicado en 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

dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase

artículo científico publicado en 2005

Lista de obras de

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

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing

A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency

Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model

Altered interaction and distribution of glycosaminoglycans and growth factors in mucopolysaccharidosis type I bone disease

An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life ⬇️

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

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment ⬇️

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

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency

Clinical utility gene card for: Mucopolysaccharidosis type II ⬇️

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome).

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry ⬇️

Disease and patient characteristics in NP-C patients: findings from an international disease registry

Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients

Drug therapy of hypercholesterolaemia in children and adolescents

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III.

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

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

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

Extended metabolic evaluation of suspected symptomatic hypoglycemia: the prolonged fast and beyond

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

Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

Fatty acid oxidation in the human fetus: Implications for fetal and adult disease

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

Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models

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

Identification of novel mutations in classical galactosemia

Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency

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

Living with classical galactosemia: health-related quality of life consequences.

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients ⬇️

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 statin treatment in children with familial hypercholesterolemia: more insight into tolerability and adherence

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review

Mitochondrial long chain fatty acid beta-oxidation in man and mouse

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype ⬇️

Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency ⬇️

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

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

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life.

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.

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.

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

Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome

Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

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

Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder ⬇️

Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome.

Statin use during pregnancy: a systematic review and meta-analysis

The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

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

dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase