Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por autor "NOEL, Esther"
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Adult-Onset Diagnosis Of Urea Cycle Disorders: Results Of A French Cohort Of 71 Patients
TOQUET, Segolene; SPODENKIEWICZ, Marta; DOUILLARD, Claire ...(Journal of Inherited Metabolic Disease, 2021-05-20)Article de revue -
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
MAUHIN, Wladimir; TEBANI, Abdellah; AMELIN, Damien ...(Journal of Clinical Medicine. vol. 11, n° 5, pp. 1233, 2022-02-24)Article de revueLibre acceso -
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
GERMAIN, Dominique P; LEVADE, Thierry; HACHULLA, Eric ...(Clinical Genetics. vol. 101, n° 4, pp. 390-402, 2022-04-01)Article de revueLibre acceso -
Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study.
GUFFON, Nathalie; GENEVAZ, Delphine; LACOMBE, Didier ...(Orphanet Journal of Rare Diseases. vol. 17, n° 1, pp. 448-460, 2022-12-23)Article de revueLibre acceso