Philippe Labrune
Centre De Référence De Pathologie Neuromusculaire Paris Est
Estonia
Estonia
Last Updated: 09/26/2026
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Found 58 publications
Imlifidase enables AAV gene therapy in a seropositive Crigler-Najjar patient: On the verge of a paradigm shift.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: April 02, 2026
Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials.
Journal: Journal of neurology
Published: February 20, 2026
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
Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.
Journal: Orphanet journal of rare diseases
Published: September 19, 2025
Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III.
Journal: JHEP reports : innovation in hepatology
Published: February 26, 2025
Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays.
Journal: Clinical genetics
Published: February 02, 2025
Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.
Journal: Orphanet journal of rare diseases
Published: August 30, 2024
Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.
Journal: Orphanet journal of rare diseases
Published: December 18, 2023
Gene Therapy in Patients with the Crigler-Najjar Syndrome.
Journal: The New England journal of medicine
Published: August 16, 2023
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 25, 2023
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.
Journal: Journal of medical genetics
Published: August 08, 2022
French recommendations for the management of glycogen storage disease type III.
Journal: European journal of medical research
Published: August 01, 2022
Last Updated: 09/26/2026