Willemijn J. Van Rijt

Groningen, GR 9700RB, Netherlands

Last Updated: 09/26/2026

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Found 10 publications

Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots.

Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots.

Journal: International journal of neonatal screening

Published: May 17, 2023

Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.

Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.

Journal: Journal of inherited metabolic disease

Published: November 16, 2020

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

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

Journal: International journal of neonatal screening

Published: September 18, 2020

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 19, 2019

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

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

Journal: Journal of inherited metabolic disease

Published: May 17, 2019

Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress.

Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress.

Journal: Molecular genetics and metabolism

Published: April 25, 2019

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

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

Journal: BMC biology

Published: July 15, 2016

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 26, 2016

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

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

Journal: Neonatology

Published: October 29, 2015

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

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

Journal: Pediatrics

Published: September 24, 2014

Showing 1-10 of 10

Last Updated: 09/26/2026