Jean-francois F. Benoist

Gif-sur-yvette, France

Last Updated: 09/26/2026

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Found 111 publications

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy.

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy.

Journal: JIMD reports

Published: January 22, 2026

Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study.

Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study.

Journal: Journal of inherited metabolic disease

Published: January 14, 2026

Vitamin-Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy.

Vitamin-Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy.

Journal: Journal of inherited metabolic disease

Published: December 06, 2025

Pharmaco-metabolomics and metabolomics: A new tool in precision medicine?

Pharmaco-metabolomics and metabolomics: A new tool in precision medicine?

Journal: Therapie

Published: November 18, 2025

Title Not Found

Title Not Found

Journal: Therapie

Published: November 18, 2025

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.

Journal: Journal of inherited metabolic disease

Published: October 07, 2025

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.

Journal: Journal of inherited metabolic disease

Published: October 07, 2025

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases.

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases.

Journal: Journal of inherited metabolic disease

Published: September 22, 2025

Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.

Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.

Journal: Molecular genetics and metabolism reports

Published: August 22, 2025

Liver Cancer in Methylmalonic and Propionic Acidemias: A Rare Complication? A Clinico-Pathological Study of 24 Livers.

Liver Cancer in Methylmalonic and Propionic Acidemias: A Rare Complication? A Clinico-Pathological Study of 24 Livers.

Journal: Journal of inherited metabolic disease

Published: August 14, 2025

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

Journal: Journal of inherited metabolic disease

Published: August 01, 2025

MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.

MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.

Journal: Journal of inherited metabolic disease

Published: May 19, 2025

Showing 1-12 of 111

Last Updated: 09/26/2026