Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form of Sandhoff disease. ELISA system involving anti-GM2 monoclonal antibodies for meas...
Early changes in the apparent diffusion coefficient (ADC) in a mouse model of Sandhoff's disease occur prior to disease symptoms and behavioral deficits. Magn Reson Med. 2009;62:1175–84. PubMed PubMed Central Google Scholar Aschauer DF, Kreuz S, Rumpel S. Analysis of transduction ...
Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy. mouse model of Sandhoff disease, substrate deprivation delayed the onset of symptoms and disease progression and significantly increased life expectancy. Combining... FM Platt,M Jeyakumar,U Andersson,... ...
Tay-Sachs Disease and Sandhoff Disease - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer Version.
Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutationsClinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five nov...
Patients with mutations in their HEXA or HEXB genes display symptoms when their Hex A activity is ≤10% of WT levels. In ATSD, no Hex S can be detected, but normal levels of Hex B (MUG/MUGS ratio is ∼150/1) are present. Based on the MUG/MUGS ratio of pure Hex A and Hex B...
IntraBio investigational new drug application approved by the FDA for the treatment of Tay-Sachs and Sandhoff Disease
A late-onset form of Sandhoff disease is rare, and its symptoms are heterogeneous. As drug trials that aim to intervene in the disease mechanism are emerging, the recognition and identification of Sandhoff disease patients—particularly those with atypical phenotypes—are becoming more important. The...
doi:10.1007/978-1-4020-6754-9_15022Characterized either by the absence of both β-hexosaminidase α and β activity or by β-hexosaminidase β subunit only. This autosomal recessive hereditary defect has very similar symptoms to those of...Springer Netherlands...
In order to improve the diagnosis and expand the knowledge of the disease, we collected and analyzed relevant data of clinical diagnosis, biochemical investigation, and molecular mutational analysis in five Chinese patients with SD. The patients presented with heterogenous symptoms of neurologic ...