Judith J. Jans

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 97 publications

Undetectable Hydroxyurea Levels in the Majority of Sickle Cell Disease Patients, Especially in Young Children.

Undetectable Hydroxyurea Levels in the Majority of Sickle Cell Disease Patients, Especially in Young Children.

Journal: American journal of hematology

Published: June 10, 2026

S-adenosylmethionine as an epigenetic treatment of depression in adults with childhood trauma.

S-adenosylmethionine as an epigenetic treatment of depression in adults with childhood trauma.

Journal: Epigenomics

Published: April 24, 2026

Univariate- and machine learning-based plasma metabolite signature differentiates PSC-IBD from IBD and is predicted to be driven by gut microbial changes.

Univariate- and machine learning-based plasma metabolite signature differentiates PSC-IBD from IBD and is predicted to be driven by gut microbial changes.

Journal: Metabolomics : Official journal of the Metabolomic Society

Published: December 22, 2025

Pyrin inflammasome activation triggers an IL-18-driven IFN-γ response in mevalonate kinase deficiency.

Pyrin inflammasome activation triggers an IL-18-driven IFN-γ response in mevalonate kinase deficiency.

Journal: The Journal of allergy and clinical immunology

Published: November 25, 2025

NMNAT3 deficiency: a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysis.

NMNAT3 deficiency: a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysis.

Journal: Blood

Published: July 24, 2025

Metabolomics in sickle cell disease: Current knowledge and gaps - A scoping review.

Metabolomics in sickle cell disease: Current knowledge and gaps - A scoping review.

Journal: Blood reviews

Published: June 25, 2025

Broad Vitamin B6-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency).

Broad Vitamin B6-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency).

Journal: International journal of molecular sciences

Published: March 03, 2025

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.

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

Published: January 13, 2025

Red blood cell pyruvate kinase properties in Townes and Berkeley sickle cell disease mouse models - Of mice and men.

Red blood cell pyruvate kinase properties in Townes and Berkeley sickle cell disease mouse models - Of mice and men.

Journal: Blood cells, molecules & diseases

Published: November 19, 2024

Pyruvate Kinase Function Correlates With Red Blood Cell Properties and Clinical Manifestations in Sickle Cell Disease.

Pyruvate Kinase Function Correlates With Red Blood Cell Properties and Clinical Manifestations in Sickle Cell Disease.

Journal: American journal of hematology

Published: November 19, 2024

Untargeted metabolic analysis in serum samples reveals metabolic signature in children with congenital heart failure on enalapril therapy.

Untargeted metabolic analysis in serum samples reveals metabolic signature in children with congenital heart failure on enalapril therapy.

Journal: Frontiers in pediatrics

Published: November 18, 2024

Anaplerosis by medium-chain fatty acids through complex interplay with glucose and glutamine metabolism.

Anaplerosis by medium-chain fatty acids through complex interplay with glucose and glutamine metabolism.

Journal: The Journal of biological chemistry

Published: November 08, 2024

Showing 1-12 of 97

Last Updated: 09/26/2026