Catherine Caillaud
Paris, France
Last Updated: 09/26/2026
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Found 53 publications
Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation.
Journal: Journal of internal medicine
Published: February 28, 2026
[Erratum to "Fabry disease during the last 20 years: Analysis of a cohort of 107 patients, and focus on the F113L variant" [Rev Med Interne 46 (2025) 571-574]].
Journal: La Revue de medecine interne
Published: November 18, 2025
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
Restoration of lysosomal membrane integrity in cell models of Pompe disease depends on fatty acid synthase and its product palmitic acid.
Journal: Cellular & molecular biology letters
Published: September 12, 2025
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.
Journal: Orphanet journal of rare diseases
Published: March 25, 2025
Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades.
Journal: Journal of inherited metabolic disease
Published: January 30, 2025
Natural history of adult-onset metachromatic leukodystrophy.
Journal: Journal of neurology
Published: December 20, 2024
Fabry disease during the last 20 years: Analysis of a cohort of 107 patients, and focus on the F113L variant
Journal: La Revue de medecine interne
Published: August 02, 2024
Metachromatic leukodystrophy (MLD) in France: the views of family caregivers on the diagnosis of the disease, its daily burden on their child, and the whole family.
Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: July 30, 2024
Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis.
Journal: Orphanet journal of rare diseases
Published: June 10, 2024
Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy-Oldest case of a presymptomatic enzyme therapy.
Journal: European journal of neurology
Published: February 10, 2024
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Journal: Molecular genetics and metabolism
Published: July 04, 2023
Last Updated: 09/26/2026