Results 151 to 160 of about 5,278 (187)

EPH85 Clinical Burden of GM2 Gangliosidoses in the United States (US): A Retrospective Observational Cohort Study Using Electronic Health Records (EHR)

Value in Health, 2023
M.B. Rodriguez, N. Petruski-Ivleva, R. Pulikottil-Jacob, I. Batsu, A.L. Flores, M. Fournier, J. Kissell, R. Zheng, D. Madziva, S. Umarje, C. Tifft   +10 more
semanticscholar   +1 more source

AMETHIST: Baseline characteristics from a phase 3 trial of venglustat, a novel brain-penetrant glucosylceramide synthase inhibitor, in GM2-gangliosidoses and related diseases

Molecular Genetics and Metabolism, 2023
C. Tifft, I. Batsu, Ri-liang Zheng, P. Minini   +3 more
semanticscholar   +1 more source

B1-Variante der GM2-Gangliosidose — Fallbeschreibung eines seltenen Krankheitsbildes

1991
Die klassische GM2-Gangliosidose Typ B (Tay-Sachs) ist durch einen Mangel an Beta-Hexosaminidase A (HexA) charakterisiert, was zu einer abnormen Anhaufung von GM2-Gangliosiden fuhrt. 1980 beschrieben Goldman et al. eine GM2-Gangliosidose mit normaler HexA-Aktivitat gegen das kunstliche Sub-strat (4-Methylumbelliferyl-2-acedamido-2-deoxy-beta-D ...
C. Benninger, G. Mittermaier, J. Pietz, M. Cantz, H. P. Schmitt, S. S. Zhan   +5 more
openaire   +1 more source

Identification of late-onset GM2 gangliosidoses (LOGG) patients using Optum's de-identified Market Clarity Database

Molecular Genetics and Metabolism, 2022
Camille Rochmann, S. Kabadi, M. Petrović, A. Flores   +3 more
semanticscholar   +1 more source

Characterization of a late-infantile subtype in GM2-gangliosidosis: First result of the German “Eight at One Stroke: Attention Gangliosidoses” registry

Molecular Genetics and Metabolism, 2022
E. Mengel, M. Ries, Grecia Mendoza, Laila Arash-Kaps, Yasmina Amraoui, Birgit Hardt, Folker Quack, M. Beck   +7 more
semanticscholar   +1 more source

P.75 GM2 Gangliosidoses patient journey: Results from interviews with Late-Onset GM2 patients and frontline treaters

Neuromuscular Disorders, 2022
M. Lopshire, A. Flores, J. Burns, R. Gould, I. Batsu   +4 more
semanticscholar   +1 more source

Venglustat in GM2 Gangliosidoses and Related Disorders: Results of the AMETHIST Randomized Controlled and Basket Trials.

Genetics in Medicine
C. Tifft, Isabela Batsu, Roberto Giugliani, H. Goyeau, Andreas Hahn, Simon A. Jones, P. Minini, Ichiro Nakashima, Mar O’Callaghan, Susan Perlman, Nathan Thibault, Madhurima Uppara Kowthalam, Riliang Zheng, T. M. Cox   +13 more
semanticscholar   +1 more source

An atypical case of spastic paraplegia type 11 mimicking a GM2 gangliosidoses

Journal of Neurological Sciences, 2021
D. Lopergolo, G. Berti, F. Mari, E. Bertini, C. Battisti, A. Renieri, A. Rufa, A. Malandrini   +7 more
semanticscholar   +1 more source

EPH8 Natural History and Burden of Disease Among Patients With Juvenile GM2 Gangliosidoses in France

Value in Health
Daisy Ng-Mak, Sarah Ba, S. Pichard, L. Watier, Leila Alaoui Sosse, Sarah Bakiri, Camille Berenguier, Patricia Viard, Y. Nadjar   +8 more
semanticscholar   +1 more source

GM2 gangliosidoses

The Biomedical & Life Sciences Collection, 2007
openaire   +1 more source