Mirian C. Janssen

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 151 publications

Gut microbiota alterations in individuals with mitochondrial disease caused by the m.3243A >G mutation.

Gut microbiota alterations in individuals with mitochondrial disease caused by the m.3243A >G mutation.

Journal: Molecular genetics and metabolism

Published: March 04, 2026

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Journal: Journal of inherited metabolic disease

Published: January 16, 2026

Cross-species urinary metabolomics identifies 2-hydroxyisovalerate as a candidate biomarker for mtDNA-based disorders.

Cross-species urinary metabolomics identifies 2-hydroxyisovalerate as a candidate biomarker for mtDNA-based disorders.

Journal: Metabolomics : Official journal of the Metabolomic Society

Published: November 24, 2025

The goal attainment scale in primary mitochondrial disease: Construct validity and lessons learned from a randomized controlled trial.

The goal attainment scale in primary mitochondrial disease: Construct validity and lessons learned from a randomized controlled trial.

Journal: Molecular genetics and metabolism

Published: October 17, 2025

Inherited metabolic disorders in adults:growing patient numbers, advanced diagnostic tools and new treatment modalities

Inherited metabolic disorders in adults:growing patient numbers, advanced diagnostic tools and new treatment modalities

Journal: Nederlands tijdschrift voor geneeskunde

Published: July 17, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.

Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.

Journal: Molecular genetics and metabolism

Published: May 31, 2025

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases.

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases.

Journal: Journal of inherited metabolic disease

Published: April 25, 2025

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group.

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group.

Journal: Journal of inherited metabolic disease

Published: November 12, 2024

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes.

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes.

Journal: Molecular genetics and metabolism

Published: November 06, 2024

Ketogenic diet in adult patients with mitochondrial myopathy.

Ketogenic diet in adult patients with mitochondrial myopathy.

Journal: Molecular genetics and metabolism

Published: August 09, 2024

Showing 1-12 of 151

Last Updated: 09/26/2026