List of works - Klary E Niezen-Koning

A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

scientific article

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

scientific article

Argininosuccinic Aciduria: Clinical and Biochemical Findings in Three Children with the Late Onset Form, with Special Emphasis on Cerebrospinal Fluid Findings of Amino Acids and Pyrimidines ⬇️

scientific article published on February 1, 1993

Association between methylation of the SLC6A4 promoter region in peripheral blood leukocytes and methylation in amygdala tissue.

scientific article published in April 2014

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.

scientific article published on 17 March 2011

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

scientific article

External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study

scientific article published on 01 January 2005

In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes ⬇️

scientific article published on March 20, 2013

Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease

scientific article published on 17 October 2006

Muscular glycogen storage diseases without increased glycogen content on histopathological examination

scientific article published on 30 May 2007

Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

scientific article published on 16 March 2012

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

scientific article

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

scientific article published on 22 June 2016

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion

scientific article published on 28 November 2006

Plasma hemopexin activity in pregnancy and preeclampsia

scientific article published on 01 January 2007

Pompe disease: current state of treatment modalities and animal models.

scientific article published on 07 September 2007

Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency

scientific article published on 18 June 2007

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

scientific article

Serotonergic perturbations in dystonia disorders-a systematic review

scientific article published on 9 April 2016

Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated

scientific article

Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential

article

Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature ⬇️

scientific article published on November 1, 1997

Translational Targeted Proteomics Profiling of Mitochondrial Energy Metabolic Pathways in Mouse and Human Samples.

scientific article published on 22 July 2016

Vascular contraction and preeclampsia: downregulation of the Angiotensin receptor 1 by hemopexin in vitro

scientific article published on 4 May 2009

List of works by Klary E Niezen-Koning

A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

Argininosuccinic Aciduria: Clinical and Biochemical Findings in Three Children with the Late Onset Form, with Special Emphasis on Cerebrospinal Fluid Findings of Amino Acids and Pyrimidines ⬇️

Association between methylation of the SLC6A4 promoter region in peripheral blood leukocytes and methylation in amygdala tissue.

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study

In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes ⬇️

Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease

Muscular glycogen storage diseases without increased glycogen content on histopathological examination

Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

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

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion

Plasma hemopexin activity in pregnancy and preeclampsia

Pompe disease: current state of treatment modalities and animal models.

Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

Serotonergic perturbations in dystonia disorders-a systematic review

Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated

Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential

Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature ⬇️

Translational Targeted Proteomics Profiling of Mitochondrial Energy Metabolic Pathways in Mouse and Human Samples.

Vascular contraction and preeclampsia: downregulation of the Angiotensin receptor 1 by hemopexin in vitro