Results 131 to 140 of about 6,691 (192)
Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene. [PDF]
Neurol Genet, 2018 Sung AR, Moretti P, Shaibani A.
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Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease. [PDF]
Mol Genet Metab, 2019 Ou L, Przybilla MJ, Whitley CB.
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Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene. [PDF]
J Vet Intern Med, 2018 Wang P +5 more
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AAV-mediated gene delivery attenuates neuroinflammation in feline Sandhoff disease. [PDF]
Neuroscience, 2017 Bradbury AM +15 more
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Investigating Sandhoff Disease in Saskatchewan
, 2013 A Thesis Submitted to the Faculty of Graduate Studies and Research in Partial Fulfillment of the Requirements for the Degree of Doctor of Philosophy in Biology, University of Regina. xii, 142p. Sandhoff disease is an autosomal recessive lysosomal storage disease caused by mutations in the HEXB gene detrimentally affecting the enzyme β-hexosaminidase ...
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Farber disease: Understanding a fatal childhood disorder and dissecting ceramide biology [PDF]
, 2013 Farber S, Mark S. Sands
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Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency. [PDF]
J Neurol, 2015 Grunseich C +11 more
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