Lista de obras -

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

artículo científico publicado en 2011

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands

artículo científico publicado en 2019

Adherence issues in inherited metabolic disorders treated by low natural protein diets.

artículo científico

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

scientific article published on 21 February 2019

Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries. ⬇️

artículo científico publicado en 2015

Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature.

artículo científico publicado en 2008

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Bone mineral density is within normal range in most adult phenylketonuria patients

artículo científico publicado en 2020

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

Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria.

artículo científico publicado en 2017

Classical galactosaemia revisited.

artículo científico publicado en 2006

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

scientific article published on 07 February 2020

Clinical features of galactokinase deficiency:A review of the literature ⬇️

artículo científico publicado el 1 de diciembre de 2002

Clinical pathways for inborn errors of metabolism: warranted and feasible ⬇️

artículo científico publicado el 25 de febrero de 2013

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience

artículo científico publicado en 2016

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

artículo científico publicado en 2007

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

article

Cognitive functioning in patients with classical galactosemia: a systematic review

artículo científico publicado en 2019

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

artículo científico publicado en 2017

Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: a start toward standardized outcome measurement across development.

artículo científico

Congenital hemangiopericytoma: two case reports ⬇️

artículo científico publicado el 1 de marzo de 1998

Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires

artículo científico publicado en 2015

Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme

artículo científico publicado en 2016

Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study

artículo científico publicado en 2013

Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

article

Galactosaemia - should it be screened in newborns?

artículo científico publicado en 2018

Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal age.

artículo científico publicado en 2007

High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme.

artículo científico publicado en 2007

High tolerance for oral galactose in classical galactosaemia: dietary implications.

artículo científico publicado en 2004

Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome

artículo científico publicado en 1998

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

scientific article published on 08 April 2019

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.

artículo científico publicado en 2013

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Issues with European guidelines for phenylketonuria - Authors' reply.

artículo científico publicado en 2017

Key European guidelines for the diagnosis and management of patients with phenylketonuria.

artículo científico publicado en 2017

Limited data to evaluate real-world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I

artículo científico publicado en 2019

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

artículo científico publicado en 2004

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

artículo científico publicado en 2017

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

artículo científico publicado en 2013

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

Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

scientific article published on 27 February 2019

Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes

artículo científico publicado en 2016

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.

artículo científico publicado en 2009

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

artículo científico publicado en 2016

Predicting health-related quality of life of parents of children with inherited metabolic diseases.

artículo científico publicado en 2009

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

scientific article published on 17 July 2019

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research

artículo científico publicado en 2018

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

scientific article published on 01 January 2019

Psychometric Validation of the Newly Developed Phenylketonuria- Quality of Life (Pku-Qol) Questionnaires Assessing the Impact of Phenylketonuria and Its Treatment On Patients' Quality of Life

scientific article published on 26 October 2014

Psychosocial aspects of PKU: hidden disabilities--a review.

artículo científico publicado en 2010

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

artículo científico publicado en 2014

Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data

artículo científico publicado en 2018

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

scientific article published on 08 November 2019

Remarkable differences: the course of life of young adults with galactosaemia and PKU

artículo científico publicado en 2009

Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria".

artículo científico publicado en 2018

Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria

artículo científico publicado en 2018

Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia.

artículo científico publicado en 2004

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

artículo científico publicado en 2016

Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.

artículo científico publicado en 2017

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.

artículo científico publicado en 2013

The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration

artículo científico publicado en 2011

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives ⬇️

artículo científico publicado el 29 de octubre de 2012

The complete European guidelines on phenylketonuria: diagnosis and treatment.

artículo científico publicado en 2017

The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria.

artículo científico publicado en 2006

The galactosemia network (GalNet).

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 ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy.

artículo científico publicado en 2011

The natural history of classic galactosemia: lessons from the GalNet registry

artículo científico publicado en 2019

The need for additional care in patients with classical galactosaemia

artículo científico publicado en 2018

The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

artículo científico publicado en 2016

The time consuming nature of phenylketonuria: A cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands ⬇️

artículo científico publicado el 10 de mayo de 2013

[Bilateral cataract in childhood years: always an indication for screening on a metabolic disorder]

artículo científico publicado en 2008

[Neonatal screening for metabolic diseases: need for efficacy studies]

artículo científico publicado en 2008

Lista de obras de

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

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands

Adherence issues in inherited metabolic disorders treated by low natural protein diets.

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries. ⬇️

Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature.

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis

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

Bone mineral density is within normal range in most adult phenylketonuria patients

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 ⬇️

Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria.

Classical galactosaemia revisited.

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

Clinical features of galactokinase deficiency:A review of the literature ⬇️

Clinical pathways for inborn errors of metabolism: warranted and feasible ⬇️

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

Cognitive functioning in patients with classical galactosemia: a systematic review

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

Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: a start toward standardized outcome measurement across development.

Congenital hemangiopericytoma: two case reports ⬇️

Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires

Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme

Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study

Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

Galactosaemia - should it be screened in newborns?

Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal age.

High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme.

High tolerance for oral galactose in classical galactosaemia: dietary implications.

Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

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

Issues with European guidelines for phenylketonuria - Authors' reply.

Key European guidelines for the diagnosis and management of patients with phenylketonuria.

Limited data to evaluate real-world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I

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

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

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

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

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.

Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.

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

Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.

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

Predicting health-related quality of life of parents of children with inherited metabolic diseases.

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

Psychometric Validation of the Newly Developed Phenylketonuria- Quality of Life (Pku-Qol) Questionnaires Assessing the Impact of Phenylketonuria and Its Treatment On Patients' Quality of Life

Psychosocial aspects of PKU: hidden disabilities--a review.

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

Remarkable differences: the course of life of young adults with galactosaemia and PKU

Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria".

Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria

Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia.

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

Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.

The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives ⬇️

The complete European guidelines on phenylketonuria: diagnosis and treatment.

The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria.

The galactosemia network (GalNet).

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

The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy.

The natural history of classic galactosemia: lessons from the GalNet registry

The need for additional care in patients with classical galactosaemia

The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

The time consuming nature of phenylketonuria: A cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands ⬇️

[Bilateral cataract in childhood years: always an indication for screening on a metabolic disorder]

[Neonatal screening for metabolic diseases: need for efficacy studies]