Evidence of Lysosomal β-Hexosaminidase Enzymatic Activity Associated with Extracellular Vesicles: Potential Applications for the Correction of Sandhoff Disease. [PDF]
J Funct BiomaterCalzoni E +9 more
europepmc +1 more source
AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease) [PDF]
, 2018 et al,, Jiang, Xuntain, Ory, Daniel S
core +1 more source
Cinnamic acid, a natural plant compound, exhibits neuroprotection in a mouse model of Sandhoff disease via PPARα. [PDF]
NeuroImmune Pharm TherRaha S, Paidi RK, Dutta D, Pahan K.
europepmc +1 more source
Genetic variant reanalysis reveals a case of Sandhoff disease with onset of infantile epileptic spasm syndrome. [PDF]
Acta EpileptolZhang Q +5 more
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Intrathecal delivery of a bicistronic AAV9 vector expressing β-hexosaminidase A corrects Sandhoff disease in a murine model: A dosage study. [PDF]
Mol Ther Methods Clin DevRyckman AE +7 more
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An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty. [PDF]
Ann Rehabil Med, 2017 Moon JG +4 more
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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.
europepmc +1 more source
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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