Lista de obras -

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

A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring

article

Acute exercise in treated phenylketonuria patients: Physical activity and biochemical response

artículo científico publicado en 2015

Analysis of body composition and nutritional status in Brazilian phenylketonuria patients.

artículo científico publicado en 2016

BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations

artículo científico publicado en 2014

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy

artículo científico publicado en 2017

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

artículo científico publicado en 2016

Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.

artículo científico publicado en 2017

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency

artículo científico publicado en 2017

Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands.

artículo científico publicado en 2007

Determination of amylose/amylopectin ratio of starches

artículo científico publicado en 2015

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations

artículo científico publicado en 2020

Dietary management in glycogen storage disease type III: what is the evidence?

artículo científico publicado en 2014

Dietary treatment of glycogen storage disease type Ia: uncooked cornstarch and/or continuous nocturnal gastric drip-feeding?

artículo científico publicado en 2013

Disturbed hepatic carbohydrate management during high metabolic demand in medium-chain acyl-CoA dehydrogenase (MCAD)-deficient mice

scientific journal article

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

artículo científico publicado en 2020

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.

artículo científico publicado en 2015

Erratum to: In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

artículo científico publicado en 2015

Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children

scientific article published on 29 July 2014

Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency.

artículo científico publicado en 2014

Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD.

artículo científico publicado en 2014

From genome to phenome—Simple inborn errors of metabolism as complex traits

artículo científico publicado en 2014

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

artículo científico publicado en 2016

Glycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas.

artículo científico publicado en 2018

Hepatocytes contribute to residual glucose production in a mouse model for glycogen storage disease type Ia.

artículo científico

In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

artículo científico publicado en 2014

Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.

artículo científico publicado en 2016

Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis

artículo científico publicado en 2018

Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

artículo científico publicado en 2014

Inflammatory Bowel Disease in Glycogen Storage Disease Type Ia

artículo científico publicado en 2017

Inhibition of mitochondrial fatty acid oxidation in vivo only slightly suppresses gluconeogenesis but enhances clearance of glucose in mice.

artículo científico publicado en 2008

Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism

artículo científico publicado en 2020

Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions.

artículo científico publicado en 2015

Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders.

artículo científico publicado en 2016

MPV17: Fatal hepatocerebral presentation in a Brazilian infant

artículo científico publicado en 2012

Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI.

artículo científico publicado en 2017

Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III

artículo científico publicado en 2015

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.

artículo científico publicado en 2008

Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: a perinatal protocol for use before population neonatal screening test results become available

artículo científico publicado en 2016

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

Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.

artículo científico publicado en 2015

Recombinant phenylalanine ammonia lyase in phenylketonuria

scientific article published on 14 April 2014

Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance

scientific article published on 13 November 2019

Safe and unsafe duration of fasting for children with MCAD deficiency.

artículo científico publicado en 2006

Single amino acid supplementation in aminoacidopathies: a systematic review

artículo científico publicado en 2014

Sweet and sour aspects of medium-chain acyl CoA dehydrogenase deficiency. Commentary on K. Yusuf et al.: Neonatal ventricular tachyarrhythmias in medium chain acyl-CoA dehydrogenase deficiency (Neonatology 2010;98:260-264)

artículo científico publicado en 2010

The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study.

artículo científico publicado en 2005

The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.

artículo científico publicado en 2006

The potential of dietary treatment in patients with glycogen storage disease type IV

artículo científico publicado en 2020

Use of vacuum-assisted closure system in the management of complex wounds in the neonate.

artículo científico publicado en 2005

What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?

artículo científico publicado en 2017

[Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme]

scientific article published on 01 October 2004

Lista de obras de

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

A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring

Acute exercise in treated phenylketonuria patients: Physical activity and biochemical response

Analysis of body composition and nutritional status in Brazilian phenylketonuria patients.

BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency

Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands.

Determination of amylose/amylopectin ratio of starches

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations

Dietary management in glycogen storage disease type III: what is the evidence?

Dietary treatment of glycogen storage disease type Ia: uncooked cornstarch and/or continuous nocturnal gastric drip-feeding?

Disturbed hepatic carbohydrate management during high metabolic demand in medium-chain acyl-CoA dehydrogenase (MCAD)-deficient mice

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.

Erratum to: In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children

Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency.

Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD.

From genome to phenome—Simple inborn errors of metabolism as complex traits

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

Glycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas.

Hepatocytes contribute to residual glucose production in a mouse model for glycogen storage disease type Ia.

In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.

Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis

Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

Inflammatory Bowel Disease in Glycogen Storage Disease Type Ia

Inhibition of mitochondrial fatty acid oxidation in vivo only slightly suppresses gluconeogenesis but enhances clearance of glucose in mice.

Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism

Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions.

Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders.

MPV17: Fatal hepatocerebral presentation in a Brazilian infant

Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI.

Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.

Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: a perinatal protocol for use before population neonatal screening test results become available

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

Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.

Recombinant phenylalanine ammonia lyase in phenylketonuria

Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance

Safe and unsafe duration of fasting for children with MCAD deficiency.

Single amino acid supplementation in aminoacidopathies: a systematic review

Sweet and sour aspects of medium-chain acyl CoA dehydrogenase deficiency. Commentary on K. Yusuf et al.: Neonatal ventricular tachyarrhythmias in medium chain acyl-CoA dehydrogenase deficiency (Neonatology 2010;98:260-264)

The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study.

The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.

The potential of dietary treatment in patients with glycogen storage disease type IV

Use of vacuum-assisted closure system in the management of complex wounds in the neonate.

What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?

[Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme]