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Orphanet Journal of Rare Diseases|June 16, 2023
GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopeniaAndrea Pession, Maja Di Rocco, Francesco Venturelli, et al.Orphanet Journal of Rare Diseases|July 31, 2020
Patients with ACVR1<sup>R206H</sup> mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans ProgressivaSamuel Kou, Carmen De Cunto, Geneviève Baujat, et al.Scientific Reports|November 29, 2019
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside contentRodolfo Tonin, Anna Caciotti, Elena Procopio, et al.Molecular Genetics and Metabolism|August 30, 2017
Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physiciansAtul Mehta, Nadia Belmatoug, Bruno Bembi, et al.Clinical Genetics|December 4, 2019
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlapSilvia Morlino, Lucia Micale, Marco Ritelli, et al.Orphanet Journal of Rare Diseases|February 10, 2018
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapyRossella Parini, Paola De Lorenzo, Andrea Dardis, et al.Journal of Pediatric Gastroenterology and Nutrition|August 8, 2015
Clinical Features of Lysosomal Acid Lipase DeficiencyBarbara K Burton, Patrick B Deegan, Gregory M Enns, et al.Journal of Medical Genetics|January 24, 2018
<i>FAM46A</i> mutations are responsible for autosomal recessive osteogenesis imperfectaMathilde Doyard, Séverine Bacrot, Céline Huber, et al.Bone|February 17, 2020
Self-reported baseline phenotypes from the International Fibrodysplasia Ossificans Progressiva (FOP) Association Global RegistryRobert J Pignolo, Kin Cheung, Sammi Kile, et al.Journal of Inherited Metabolic Disease|April 6, 2011
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapyRenzo Manara, Elena Priante, Marco Grimaldi, et al.Pageof 14