Results 81 to 90 of about 1,294 (181)
Development and characterization of GM2 gangliosidoses mouse models
, 2023 GM2 gangliosidoses are a group of rare lysosomal storage disorders (LSDs) characterized by lysosomal accumulation of GM2 ganglioside in the nervous system, resulting in a range of neurodegenerative disorders. These disorders result from mutations in the genes encoding the š¯›¼- or š¯›½-subunits of the enzyme š¯›½-hexosaminidase A (HexA), or more rarely the GM2 ...
openaire +1 more source
Sandhoff disease (GM2 gangliosidoses) in a premature patient with bronchopulmonary dysplasia.
Neurosciences (Riyadh, Saudi Arabia), 2002 We report a female premature infant with bronchopulmonary dysplasia and Sandhoff disease. The clue for diagnosis was the fundoscopy examination. We discuss this rare disease with unusual presentation of intrauterine growth retardation, premature delivery, and bronchopulmonary dysplasia.
Atiqa, Abdul-Wahab +2 more
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Molecular Therapy for Lysosomal Storage Diseases [PDF]
, 2013 Itoh, Kohji, Tsuji, Daisuke
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Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease [PDF]
, 2018 et al,, Jiang, Xuntian, Ory, Daniel S
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VaProS: a database-integration approach for protein/genome information retrieval [PDF]
core +1 more source
Bioprinting neural tissue to decode Sandhoff disease: promise and barriers. [PDF]
Ann Med Surg (Lond)Ullah SH +4 more
europepmc +1 more source
Sequencing the Genome of the Domestic Cat Felis catus [PDF]
, 2002 Giger, Urs +8 more
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Long-term follow-up of a Tay-Sachs disease patient with cherry-red spot. [PDF]
Am J Ophthalmol Case RepTsutsumi N +3 more
europepmc +1 more source