Results 161 to 170 of about 2,137 (206)

Clinical Course of GM₁Gangliosidoses

Neuropediatrics, 1984
The GM1 gangliosidoses are clinically characterized by the combination of a degenerative process in the brain and of storage phenomena in extra-neural tissues, particularly in bones and visceral organs. Phenotypic variability is pronounced. "Classical" types, according to the age at onset, are infantile ("generalized"), juvenile, and adult forms.
openaire   +2 more sources

Chapter 9 GM2 gangliosidoses

2007
LOGM(2)G results from the defective activity of the lyosomal enzyme beta-hexosaminidase A. Continued accumulation of undegraded substrate results in pathology in the central nervous system. The disease is progressive and disease dynamics may vary throughout life.
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Gangliosidoses (GM1 and GM2)

2016
GM1 gangliosidosis is due to beta-galactosidase deficiency. The adult-onset form is characterized by progressive generalized dystonia, often associated with akineto-rigid Parkinsonism. Mild skeletal dysplasia and short stature are good diagnostic clues. GM2 gangliosidosis is due to beta-hexosaminidase deficiency.
Emmanuel Roze, Frédéric Sedel
openaire   +1 more source

Differential expression and localization of NEU1 and NEU4 in the CNS of mouse models of GM2 gangliosidoses

Molecular Genetics and Metabolism, 2023
A. Peek, Sarah Okun, F. Weaver, Suleiman A. Igdoura   +3 more
semanticscholar   +1 more source

P362 Humanistic burden of neurodegenerative lysosomal disorders in the US: insights from caregivers of patients living with GM1 and GM2 gangliosidoses

Neuromuscular Disorders, 2023
M. Rodriguez, K. Heuer, C. Waggoner, D. Jussila, N. Perez, R. Krupnick   +5 more
semanticscholar   +1 more source

P363 The AMETHIST phase 3 trial of venglustat in patients with GM2 gangliosidoses and related diseases: baseline characteristics

Neuromuscular Disorders, 2023
R. Zheng, C. Tifft, P. Minini, I. Batsu
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

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

The gangliosidoses

The American Journal of Medicine, 1969
L, Schneck, B W, Volk, A, Saifer
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The GM1 Gangliosidoses

2007
The gangliosidoses are a group of lysosomal storage diseases characterized by the accumulation of these complex glycolipids in multiple organs of the body. They manifest a predominantly neurological phenotype, a fact that is probably related to their high prevalence in nervous tissues. The typical presentation is that of a progressive neurodegenerative
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