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Disturbed hepatic carbohydrate management during high metabolic demand in medium-chain acyl-CoA dehydrogenase (MCAD)-deficient miceBH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations.Acute exercise in treated phenylketonuria patients: Physical activity and biochemical responseLiving on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders.Analysis of body composition and nutritional status in Brazilian phenylketonuria patients.Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands.Childhood Pompe disease: clinical spectrum and genotype in 31 patients.Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.Single amino acid supplementation in aminoacidopathies: a systematic reviewDietary management in glycogen storage disease type III: what is the evidence?Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions.Hepatocytes contribute to residual glucose production in a mouse model for glycogen storage disease type Ia.Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.Safe and unsafe duration of fasting for children with MCAD deficiency.Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?Dietary treatment of glycogen storage disease type Ia: uncooked cornstarch and/or continuous nocturnal gastric drip-feeding?Inhibition of mitochondrial fatty acid oxidation in vivo only slightly suppresses gluconeogenesis but enhances clearance of glucose in mice.Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency.What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI.Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD.Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.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 with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis.Use of vacuum-assisted closure system in the management of complex wounds in the neonate.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.Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in childrenFrom genome to phenome—Simple inborn errors of metabolism as complex traitsMPV17: Fatal hepatocerebral presentation in a Brazilian infantDetermination of amylose/amylopectin ratio of starchesA preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoringGlycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas.[Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme]
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description
investigador
@es
researcher
@en
name
Terry G J Derks
@en
Terry G J Derks
@nl
type
label
Terry G J Derks
@en
Terry G J Derks
@nl
prefLabel
Terry G J Derks
@en
Terry G J Derks
@nl
P31
P496
0000-0002-7259-1095