Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "DAMAJ, Lena"
Now showing items 1-3 of 3
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Severe phenotype in patients with large deletions of NF1
PACOT, Laurence; VIDAUD, Dominique; SABBAGH, Audrey ...(Cancers. vol. 13, n° 12, 2021-06-13)Article de revueOpen access -
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 -
Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients.
DENAMUR, Sophie; TOUATI, Guy; DEBELLEIX, Stephane ...(ERJ Open Research. vol. 8, n° 1, 2022-01-01)Article de revueOpen access