Jean-marie M. Saudubray
Paris, France
Last Updated: 09/26/2026
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Found 22 publications
Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review.
Journal: Journal of inherited metabolic disease
Published: June 16, 2025
A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback.
Journal: Journal of inherited metabolic disease
Published: April 28, 2025
Inborn Errors of Cell Trafficking and Complex Lipids: A Further Step in Redefining Hereditary Metabolic Disorders.
Journal: Journal of inherited metabolic disease
Published: March 18, 2025
"Trafficking Disorders: Phenotypical Similarities and Differences With Other IMDs".
Journal: Journal of inherited metabolic disease
Published: September 16, 2024
Genetic disorders of cellular trafficking.
Journal: Trends in genetics : TIG
Published: November 07, 2021
An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders.
Journal: Dialogues in clinical neuroscience
Published: April 03, 2019
Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians.
Journal: Journal of inherited metabolic disease
Published: January 06, 2019
New insights in inborn errors of metabolism are leading to new paradigms in child neurology
Journal: Revista de neurologia
Published: June 08, 2018
The phenotype of adult versus pediatric patients with inborn errors of metabolism.
Journal: Journal of inherited metabolic disease
Published: March 26, 2018
Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management.
Journal: Pediatric clinics of North America
Published: March 06, 2018
Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.
Journal: Journal of inherited metabolic disease
Published: February 28, 2018
Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
Journal: Brain : a journal of neurology
Published: August 23, 2015
Last Updated: 09/26/2026