Sandhoff disease should be considered in patients presenting with a slowly progressive predominately lower motor neuron disorder. A simple low-cost blood test can confirm the diagnosis.doi:10.1080/21678421.2019.1663214Maria KhoueiryElia MalekJohnny S. Salameh...
Diagnostic methods for lysosomal storage disease[J]. Rep Biochem Mol Biol, 2019,7(2):119-128. 返回引文位置Google Scholar 百度学术 万方数据 [12] Khoueiry M , Malek E , Salameh JS . Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis[J]. Amyotroph Lateral ...
To investigate the molecular pathology in an adult Sandhoff disease patient with an early disease onset, we performed mutation detection, western blot analysis and molecular simulation analysis. The patient had compound heterozygous mutations p.Arg505Gln and p.Ser341ValfsX30. Western blot analysis ...
Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease. Mol Genet Metab. 2019;126:151–6. CAS PubMed Google Scholar Passini MA, Lee EB, Heuer GG, Wolfe JH. Distribution of a lysosomal enzyme in the adult brain by axonal transport and by cells...
The abbreviations used are: GM2, N-AcGalβ1,4(NeuAcα2,3)Galβ1,4 Glc-ceramide; TSD, Tay-Sachs disease; ATSD, adult form of Tay-Sachs disease; ITSD, infantile form of Tay-Sachs disease; SD, Sandhoff disease; ISD, infantile form of Sandhoff disease; ASD, adult form of Sandhoff dise...
Thomas PK, Young E, King RH (1989) Sand- hoff disease mimicking adult-onset bulbospinal neuronopathy. J Neurol Neurosurg Psychiatry 52:1103-1106Thomas PK, Young E, King RHM. Sandhoff disease mimicking adult-onset bulbospinal neuropathy. J Neurol Neurosurg Psychiatry 1989; 52: 1103–1106...
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...
(1993) Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme. Biochim. Biophys. Acta 1182, 142146Bolhuis, P. A.; Ponne, N. J.; Bikker, H.; Baas, F.; ...
Sandhoff disease should be considered in patients presenting with a slowly progressive predominately lower motor neuron disorder. A simple low-cost blood test can confirm the diagnosis.doi:10.1590/s0004-282x2008000600023Maria KhoueiryElia Malek
I. Redonnet-Vernhet, et al., Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozy- gosity for the Ile207-NVal substitution is not associated with a clinical or biochem- ical phenotype, Biochim. Biophys. Acta 1317...