Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice
Sign Up to like & getrecommendations! Published in 2017 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddw422
Abstract: GM2 gangliosidoses are a group of lysosomal storage disorders which include Sandhoff disease and Tay-Sachs disease. Dysregulation of glutamate receptors has been recently postulated in the pathology of Sandhoff disease. Glutamate receptor association with neuronal… read more here.
Keywords: neuronal pentraxin; mice; sandhoff disease; disease ... See more keywords
Two‐Year Follow‐Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Veterinary Internal Medicine"
DOI: 10.1111/jvim.15041
Abstract: 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 leukocytes… read more here.
Keywords: sandhoff disease; magnetic resonance; spectroscopy; cerebrospinal fluid ... See more keywords
G522(P) Coping with terminal disease: a fourth-year medical student’s first encounter of a young patient with sandhoff disease
Sign Up to like & getrecommendations! Published in 2017 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2017-313087.514
Abstract: Aims Sandhoff disease is a rare disorder of lipid storage caused by an inherited deficiency of the beta-hexosaminidase enzyme, resulting in a progressive deterioration of neurological function and increasing physical dysfunction. Prognosis for patients with… read more here.
Keywords: disease; year medical; fourth year; sandhoff disease ... See more keywords