Results 91 to 100 of about 3,309 (181)

Two‐Year Follow‐Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease

Journal of Veterinary Internal Medicine, 2018
A 13‐month‐old female Toy Poodle was presented for progressive ataxia and intention tremors of head movement. The diagnosis of Sandhoff's disease (GM2 gangliosidosis) was confirmed by deficient β‐N‐acetylhexosaminidase A and B activity in circulating ...
D. Ito, C. Ishikawa, N.D. Jeffery, K. Ono, M. Tsuboi, K. Uchida, O. Yamato, M. Kitagawa   +7 more
doaj   +1 more source

Urine oligosaccharide tests for the diagnosis of oligosaccharidoses

Reviews in Analytical Chemistry, 2017
This review discusses the development of capillary electrophoresis with laser-induced detection and mass spectrometry techniques for the analysis of urinary oligosaccharides to screen for human oligosaccharidoses and related disorders.
Casado Mecedes, Ferrer-López Isaac, Ruiz-Sala Pedro, Pérez-Cerdá Celia, Artuch Rafael   +4 more
doaj   +1 more source

Gene Therapy Approaches for Neurological Lysosomal Storage Diseases [PDF]

, 2014
GM1 and GM2 gangliosidosis are lysosomal storage diseases caused by deficiency of enzymes required for ganglioside catabolism. Enzyme deficiencies cause neuronal accumulation of ganglioside resulting in progressive neurodegeneration and premature death ...
McCurdy, Victoria
core  

Phenotypic characterisation of human iPSC neuronal models of GM2 gangliosidoses [PDF]

Gangliosides are crucial components on the outer leaflet of the plasma membrane of many cells, especially neurons. Their functions are broad and varied but their high abundance in neurons leaves these cells especially vulnerable to the effects of their ...

core   +2 more sources

Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis. [PDF]

Int J Mol Sci, 2023
Vyas M, Deschenes NM, Osmon KJL, Chen Z, Ahmad I, Kot S, Thompson P, Richmond C, Gray SJ, Walia JS.   +9 more
europepmc   +1 more source

Ursodeoxycholic Acid Binds PERK and Ameliorates Neurite Atrophy in a Cellular Model of GM2 Gangliosidosis. [PDF]

Int J Mol Sci, 2023
Morales C, Fernandez M, Ferrer R, Raimunda D, Carrer DC, Bollo M.   +5 more
europepmc   +1 more source

A review of gene therapy in canine and feline models of lysosomal storage disorders [PDF]

, 2015
Bradbury, Allison M, Casal, Margret L, Gurda, Brittney L, Haskins, Mark E, Ponder, Katherine P, Vite, Charles H   +5 more
core   +2 more sources

Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis. [PDF]

Mol Genet Metab, 2021
Rowe OE, Rangaprakash D, Weerasekera A, Godbole N, Haxton E, James PF, Stephen CD, Barry RL, Eichler FS, Ratai EM.   +9 more
europepmc   +1 more source

Tay-Sachs disease: a case report

The Turkish Journal of Pediatrics, 1995
Tay-Sachs disease (GM2 gangliosidosis I) is an autosomal recessive lysosomal-storage disorder confined to the central nervous system, resulting from deficiency of hexosaminidase A.
A E Arisoy, S Ozden, G Ciliv, I Ozalp
doaj  

Proceedings 35th Symposium ESVN‐ECVN

Journal of Veterinary Internal Medicine, Volume 39, Issue 2, March/April 2025.
wiley   +1 more source