Results 141 to 150 of about 1,294 (181)
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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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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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Histoire naturelle de la gangliosidose GM2 débutant à l’âge adulte
Revue Neurologique, 2018Introduction La gangliosidose GM2 est une maladie lysosomale principalement pediatrique avec deficit en hexosaminidase A isole (Tay-Sachs, gene HEXA ) ou A + B (Sandhoff, HEXB). Une forme a debut adulte est decrite. Objectifs Clarifier l’histoire naturelle des patients GM2 a debut adulte (debut apres 10 ans d’âge), par la description de la ...
Louis Dufour +5 more
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GM2 gangliosidoses: A review of cases confirmed by β-N-acetylhexosaminidase assay
The Indian Journal of Pediatrics, 1995The inborn errors of GM2 ganglioside metabolism cause GM2 ganglioside to accumulate within the lysosomes of the nerve cells. The majority of the patients are infants with the Tay-Sachs form of the disease associated with a severe deficiency of beta-N-Acetylhexosaminidase A (hexosaminidase A).
R, Christopher +2 more
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B1-Variante der GM2-Gangliosidose — Fallbeschreibung eines seltenen Krankheitsbildes
1991Die 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 +5 more
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Genome editing on GM2 gangliosidoses fibroblasts using CRISPR/nCas9
Molecular Genetics and Metabolism, 2022Andrés F. Leal +2 more
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Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis
International Journal of Molecular Sciences, 2023Natalie Deschenes, , Steven J Gray
exaly
GM2 GANGLIOSIDOSES: CONSIDERATION OF THE GENETIC DEFECTS'
The Lancet, 1971R, Tateson, A D, Bain
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Biomedical genetics of the inherited metabolic diseases: the GM2-gangliosidoses.
American journal of mental deficiency, 1984Many of the known gene defects result in inborn errors of metabolism that produce irreversible damage to the central nervous system. A variety of new clinical, morphologic, biochemical, and genetic techniques are being used to characterize these disorders more precisely.
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