Results 91 to 100 of about 4,924,951 (177)

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Genesis of a Fact: Tay-Sachs Disease as a "Simple Recessive". [PDF]

J Pediatr Genet, 2023
Lubinsky M.
europepmc   +1 more source

GM2 Gangliosidosis (Tay-Sachs Disease), type I, Infantile Form: Clinical Case

Вопросы современной педиатрии
Background. GM2 gangliosidosis (Tay-Sachs disease, variant B, type I) is an orphan disease with autosomal recessive inheritance. It develops due to gangliosides accumulation in tissues and organs. The description of clinical case of GM2 gangliosidosis in
Artem A. Babkin, Vladimir A. Shcherbak, Elena V. Leontieva, Lada A. Kirii   +3 more
doaj   +1 more source

Enfermedad de Tay-Sachs

, 2019
Introduction: Lysosomal storage disease is caused by the deficiency of a single hydrolase (lysosomal enzymes). GM2 gangliosidoses are autosomal recessive disorders caused by deficiency of β-hexosaminidase and Tay-Sachs disease (TSD) is one of its three ...
Gualdrón-Frías, Carlos Andrés, Calderón-Nossa, Laura Tatiana   +1 more
core   +1 more source

Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

, 2010
Genetic testing for Tay-Sachs and Canavan disease is particularly important for Ashkenazi Jews, because both conditions are more frequent in that population. This comparative case study was possible because of different patenting and licensing practices.
Chandrasekharan, Subhashini, Cook-Deegan, Robert, Colaianni, Alessandra   +2 more
core   +1 more source

Late-Onset Tay-Sachs Disease - expanding the clinical phenotype. [PDF]

Tremor Other Hyperkinet Mov (N Y), 2023
Lefter S, Ryan AM.
europepmc   +1 more source

Activation of ABCC1 transporter ameliorates synaptic dysregulation in Tay-Sachs disease neuron

Neurobiology of Disease
Tay-Sachs disease (TSD) is a congenital lysosomal storage disorder, caused by deficiency in the α-subunit of β-hexosaminidase A, leading to GM2 ganglioside accumulation in the central nervous system.
Yumeng Zhang, Tadahiro Numakawa, Ryutaro Kajihara, Kiseok Lee, Jing Pu, Chisato Horita, Jun Kido, Muneaki Matsuo, Takumi Era   +8 more
doaj   +1 more source

Tay-Sachs Disease: Mechanisms of Neuropathology and Potential Therapeutic Strategies Utilizing Human Lysosomal Sialidase

, 2012
GM2 gangliosidoses encompass a group of chronic neurodegenerative disorders characterized by metabolic defects in ganglioside catabolism and marked intralysosomal accumulation of GM2 in central nervous system (CNS)-resident neurons.
Egier, David A.
core   +1 more source

Letter response: Intra-familial phenotype variability in Late-Onset Tay-Sachs disease. [PDF]

Tremor Other Hyperkinet Mov (N Y), 2023
Riboldi GM, Lau H.
europepmc   +1 more source

Natural history of Tay-Sachs disease in sheep. [PDF]

Mol Genet Metab, 2021
Story B, Taghian T, Gallagher J, Koehler J, Taylor A, Randle A, Nielsen K, Gross A, Maguire A, Carl S, Johnson S, Fernau D, Diffie E, Cuddon P, Corado C, Chandra S, Sena-Esteves M, Kolodny E, Jiang X, Martin D, Gray-Edwards H.   +20 more
europepmc   +1 more source