Melissa H. Broeks

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 11 publications

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

Inborn errors of the malate aspartate shuttle - Update on patients and cellular models.

Inborn errors of the malate aspartate shuttle - Update on patients and cellular models.

Journal: Molecular genetics and metabolism

Published: April 10, 2024

Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome.

Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome.

Journal: Brain communications

Published: February 11, 2023

The malate-aspartate shuttle is important for de novo serine biosynthesis.

The malate-aspartate shuttle is important for de novo serine biosynthesis.

Journal: Cell reports

Published: November 21, 2022

Inflammation-induced mitochondrial and metabolic disturbances in sensory neurons control the switch from acute to chronic pain.

Inflammation-induced mitochondrial and metabolic disturbances in sensory neurons control the switch from acute to chronic pain.

Journal: Cell reports. Medicine

Published: November 16, 2022

Inborn disorders of the malate aspartate shuttle.

Inborn disorders of the malate aspartate shuttle.

Journal: Journal of inherited metabolic disease

Published: March 12, 2021

Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia.

Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia.

Journal: British journal of haematology

Published: February 24, 2021

Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity.

Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity.

Journal: HemaSphere

Published: February 02, 2021

Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency.

Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency.

Journal: Haematologica

Published: July 16, 2020

Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm.

Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm.

Journal: International journal of molecular sciences

Published: November 13, 2019

MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.

MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.

Journal: Human genetics

Published: July 12, 2019

Showing 1-11 of 11

Last Updated: 09/26/2026