Xavier Dieu

Angers, France

Last Updated: 09/26/2026

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Found 34 publications

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: May 08, 2026

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy.

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy.

Journal: JAMA ophthalmology

Published: April 09, 2026

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: March 21, 2026

Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion.

Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion.

Journal: Ophthalmology science

Published: February 13, 2026

Clinical biology and artificial intelligence: Objectives of the SFBC Workgroup.

Clinical biology and artificial intelligence: Objectives of the SFBC Workgroup.

Journal: Annales de biologie clinique

Published: January 09, 2026

A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variants.

A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variants.

Journal: Scientific data

Published: July 02, 2025

Contributions of betahydroxybutyrate (BHB) determination and thanatological biochemistry in postmortem diagnosis of ketoacidosis-related fatalities: two case reports.

Contributions of betahydroxybutyrate (BHB) determination and thanatological biochemistry in postmortem diagnosis of ketoacidosis-related fatalities: two case reports.

Journal: Journal of forensic and legal medicine

Published: May 19, 2025

Machine learning-assisted quantitative metabolomics of West African patients with advanced breast cancer.

Machine learning-assisted quantitative metabolomics of West African patients with advanced breast cancer.

Journal: Scientific reports

Published: February 19, 2025

A falsely elevated blood alcohol concentration (BAC) related to an intravenous administration of phenytoin sodium.

A falsely elevated blood alcohol concentration (BAC) related to an intravenous administration of phenytoin sodium.

Journal: Clinical chemistry and laboratory medicine

Published: June 04, 2024

Metformin-related fatalities - The importance of combining forensic toxicology and postmortem biochemistry analyses in death involving antidiabetics.

Metformin-related fatalities - The importance of combining forensic toxicology and postmortem biochemistry analyses in death involving antidiabetics.

Journal: Forensic science international

Published: May 09, 2024

Rapid haemoglobin A and S quantification using Tosoh HLC-723G8 in variant mode for patients with sickle cell disease.

Rapid haemoglobin A and S quantification using Tosoh HLC-723G8 in variant mode for patients with sickle cell disease.

Journal: Biomedical chromatography : BMC

Published: October 12, 2023

Combined Metabolipidomic and Machine Learning Approach in a Rat Model of Stroke Reveals a Deleterious Impact of Brain Injury on Heart Metabolism.

Combined Metabolipidomic and Machine Learning Approach in a Rat Model of Stroke Reveals a Deleterious Impact of Brain Injury on Heart Metabolism.

Journal: International journal of molecular sciences

Published: May 26, 2023

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Last Updated: 09/26/2026