Jean-marc M. Nuoffer

Bern, BE, Switzerland

Last Updated: 09/26/2026

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Found 76 publications

Increased levels of long-chain acylcarnitines and polyunsaturated fatty acids in girls with premature adrenarche: an exploratory longitudinal metabolomics study.

Increased levels of long-chain acylcarnitines and polyunsaturated fatty acids in girls with premature adrenarche: an exploratory longitudinal metabolomics study.

Journal: The Journal of steroid biochemistry and molecular biology

Published: June 23, 2026

Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders.

Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders.

Journal: Journal of innate immunity

Published: February 26, 2026

hY3 RNA binds and inhibits ribosomes and modulates the starvation-induced integrated stress response.

hY3 RNA binds and inhibits ribosomes and modulates the starvation-induced integrated stress response.

Journal: Nucleic acids research

Published: October 19, 2025

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.

Journal: American journal of human genetics

Published: October 09, 2025

Pre-analytical considerations in the simultaneous quantification of ketone bodies, lactate, pyruvate and TCA cycle intermediates.

Pre-analytical considerations in the simultaneous quantification of ketone bodies, lactate, pyruvate and TCA cycle intermediates.

Journal: Clinical biochemistry

Published: August 04, 2025

Congenital Hyperinsulinemic Hypoglycemia With a New HADH Mutation and Pancreatic Overexpression of GLP-1 Receptors.

Congenital Hyperinsulinemic Hypoglycemia With a New HADH Mutation and Pancreatic Overexpression of GLP-1 Receptors.

Journal: The Journal of clinical endocrinology and metabolism

Published: February 12, 2025

Mitochondrial dysfunction results in enhanced adrenal androgen production in H295R cells.

Mitochondrial dysfunction results in enhanced adrenal androgen production in H295R cells.

Journal: The Journal of steroid biochemistry and molecular biology

Published: March 15, 2024

Intra- and extracellular real-time analysis of perfused fibroblasts using an NMR bioreactor: A pilot study.

Intra- and extracellular real-time analysis of perfused fibroblasts using an NMR bioreactor: A pilot study.

Journal: Journal of inherited metabolic disease

Published: February 14, 2024

Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease.

Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease.

Journal: Journal of sleep research

Published: November 13, 2023

Human T Helper 9 Cells Rely on Peroxisome Proliferator-Activated Receptor-γ-Mediated Cystine Uptake to Prevent Lipid Peroxidation and Bioenergetic Failure.

Human T Helper 9 Cells Rely on Peroxisome Proliferator-Activated Receptor-γ-Mediated Cystine Uptake to Prevent Lipid Peroxidation and Bioenergetic Failure.

Journal: The Journal of investigative dermatology

Published: October 27, 2023

Untreated Classic Galactosemia: A Rare Cause of Adult-Onset Progressive Cerebellar Ataxia - A Case Report.

Untreated Classic Galactosemia: A Rare Cause of Adult-Onset Progressive Cerebellar Ataxia - A Case Report.

Journal: Case reports in neurology

Published: September 30, 2023

Specific GAG ratios in the diagnosis of mucopolysaccharidoses.

Specific GAG ratios in the diagnosis of mucopolysaccharidoses.

Journal: JIMD reports

Published: September 26, 2023

Showing 1-12 of 76

Last Updated: 09/26/2026