Results 141 to 150 of about 2,137 (206)

Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial. [PDF]

Nat Med
Eichler F, Cataltepe OI, Daci R, Puri AS, Taghian T, Jiang X, Shazeeb MS, Kuhn A, Hader A, Celik H, Vardar Z, Lewis CJ, Artinian R, Nagy A, Vachha B, Thompson R, Gallagher T, Bateman S, Parzych J, Spanakis SG, Vaughn TA, Pier K, De Boever E, Abbott MA, D Ambrosio E, Kokoski D, Blackwood M, Drummond E, Ratai EM, Townsend EL, McLaughlin H, Tifft CJ, Keeler AM, Sena-Esteves M, Gray-Edwards HL, Flotte TR.   +35 more
europepmc   +1 more source

The Purification And Characterization Of A Gm1 Ganglioside Beta-Galactosidase From Normal Feline Brain And Liver. [PDF]

, 1977
Mole, Jacqueline Anderson
core   +1 more source

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[A case of GM1 gangliosidoses].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology, 2022
This article describes a case which seek medical advice for 2 months due to retrogressive development, The discovery of the characteristic fundus of the macular cherry-red spot is a key clue for further genetic analysis, GLB compound heterozygous mutations is detected, and enzymology results show that the acid B-galactose glucoside enzyme significantly
L L, Liu, L, Li
openaire   +3 more sources

Gangliosidoses in cats

The Thai Journal of Veterinary Medicine, 2022
Two 3-month-old, male, domestic short hair, cats of the same litter were presented to the small animal teaching hospital with the clinical sign of head tremor for 2 weeks. Three months later, the clinical sign had worsened.
Latticha Pluemhathaikij, Waruntip Bunyaputikul, Katriya Chankow, Benchaphorn Limcharoen, Nardtiwa Chaivoravitsakul, Rampaipat Penchome, Sawang Kesdangsakonwut, Kasem Rattanapinyopituk, Wijit Banlunara   +8 more
openaire   +2 more sources

The gangliosidoses

Human Pathology, 1975
The gangliosidoses are hereditary diseases with a recessive mode of inheritance and are caused by a genetically induced enzymatic block, which results in the accumulation of gangliosides in various tissues of the body, mainly in the brain. Although Tay-Sachs disease, the most commonly occurring of the gangliosidoses, has been known for nearly 100 years,
B W, Volk, M, Adachi, L, Schneck
openaire   +3 more sources

Synopsis: Gangliosidoses

Neuropediatrics, 1984
Gangliosidoses are very rare neurological diseases based on specific enzyme defects. They constitute models for the disruption of specific metabolic pathways and cellular functions with the ultimate consequence of manifest clinical symptoms. The investigation of the various steps involved in the generation of a given syndrome can therefore lead to a ...
M E, Schwab, F, Vassella
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Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff Diseases

medRxiv
The two predominating subtypes of late-onset GM2 gangliosidosis are late-onset Tay-Sachs (LOTS) and late-onset Sandhoff disease (LOSD). Due to shared deficiencies of {beta}-hexosamindase A and significant clinical overlap, the two diseases have been ...
Connor J Lewis, Leila Shirvan, Jean M. Johnston, C. Groden, John Yang, Andrea Ashton, Jessica Chong, Mark Moran, Hera Akmal, S. I. Chipman, Cris Zampieri, Jordan Wickstrom, Jesse Matsubara, Frances Gavelli, Tanya Lehky, Katharine E Alter, C. Toro, C. Tifft   +17 more
semanticscholar   +1 more source

Gangliosidoses

2003
The gangliosidoses comprise a family of lysosomal storage diseases characterized by the accumulation of complex glycosphingolipids in the nervous system and other tissues, secondary to the deficient activity of lysosomal hydrolases or their associated activator proteins. GM1 and GM2 gangliosidosis are associated with deficiency of β-galactosidase and β-
openaire   +2 more sources

Gangliosidoses

Encyclopedia of Autism Spectrum Disorders, 2018
Emma K. Lecarie
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