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3,022 results
  • Unusual case of Juvenile Tay-Sachs disease. [Journal Article]
    BMJ Case Rep 2019; 12(9)Cheema HA, Waheed N, Saeed A
  • Tay-Sachs disease (TSD) is a type 1 gangliosidosis (GM2) and caused by hexosaminidase A deficiency resulting in abnormal sphingolipid metabolism and deposition of precursors in different organs. It is a progressive neurodegenerative disorder transmitted in an autosomal-recessive manner. There is an accumulation of GM2 in neurocytes and retinal ganglions which result in progressive loss of neurolo…
  • Clinical findings in Brazilian patients with adult GM1 gangliosidosis. [Journal Article]
    JIMD Rep 2019; 49(1):96-106Giugliani L, Steiner CE, … Giugliani R
  • GM1 gangliosidosis is a lysosomal storage disorder caused by β-galactosidase deficiency. To date, prospective studies for GM1 gangliosidosis are not available, and only a few have focused on the adult form. This retrospective cross-sectional study focused on clinical findings in Brazilian patients with the adult form of GM1 gangliosidosis collected over 2 years. Ten subjects were included in the …
  • GeneReviews®: GLB1-Related Disorders [BOOK]
    University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya ARegier DS, Tifft CJBOOK
  • GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). GM1 gangliosidosis includes phenotypes that range from severe to mild. Type I (infantile) begins before age one year; progressive central nervous system dysfunction leads to spasticity, deafness, blindness, and decerebrate rigidity. Life expecta…
  • Gene-Based Approaches to Inherited Neurometabolic Diseases. [Journal Article]
    Hum Gene Ther 2019; 30(10):1222-1235Poletti V, Biffi A
  • In the last decade, the gene therapy (GT) field experienced a renaissance, thanks to crucial understandings and innovations in vector design, stem cell manipulation, conditioning protocols, and cell/vector delivery. These efforts were successfully coupled with unprecedented clinical results of the trials employing the newly developed technology and with the novel establishment of academic-industr…
  • Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling. [Journal Article]
    Mol Genet Metab Rep 2019; 20:100495Ou L, Kim S, … Jarnes-Utz JR
  • Gangliosidoses, including GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease), are lysosomal disorders resulting from enzyme deficiencies and accumulation of gangliosides. Phenotypes of gangliosidoses range from infantile, late-infantile, juvenile, and to the adult form. The genotype-phenotype correlation is essential for prognosis and clinical care planning for pat…
  • Brain endothelial specific gene therapy improves experimental Sandhoff disease. [Journal Article]
    J Cereb Blood Flow Metab 2019; :271678X19865917Dogbevia G, Grasshoff H, … Schwaninger M
  • In Tay-Sachs and Sandhoff disease, a deficiency of the lysosomal enzyme β-hexosaminidase causes GM2 and other gangliosides to accumulate in neurons and triggers neurodegeneration. Although the pathology centers on neurons, β-hexosaminidase is mainly expressed outside of neurons, suggesting that gene therapy of these diseases should target non-neuronal cells to reconstitute physiological condition…
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