Esther Noel
Strasbourg, France
Last Updated: 09/26/2026
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Found 15 publications
Treatment-related benefit and satisfaction in patients with Fabry disease in France: insight into patients' expectations and preferences from the prospective, non-interventional SATIS-Fab study.
Journal: Orphanet journal of rare diseases
Published: July 21, 2025
Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry.
Journal: Journal of clinical laboratory analysis
Published: September 02, 2024
Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study.
Journal: Orphanet journal of rare diseases
Published: June 24, 2022
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
Journal: Journal of clinical medicine
Published: January 19, 2022
Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes.
Journal: BMC medicine
Published: November 16, 2021
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
Journal: Clinical genetics
Published: September 22, 2021
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
Journal: Journal of inherited metabolic disease
Published: August 26, 2020
A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease.
Journal: Journal of clinical medicine
Published: April 06, 2020
Coagulation Parameters in Adult Patients With Type-1 Gaucher Disease.
Journal: Journal of hematology
Published: July 20, 2019
Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire.
Journal: Orphanet journal of rare diseases
Published: July 12, 2019
Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria.
Journal: BMJ case reports
Published: June 30, 2018
Last Updated: 09/26/2026