Simplified clade dendrogram of aav species representing neighbour joining. Here we present a case report of a norwegian patient with sandhoff disease. These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside gm2, its derivative ga2, the glycolipid globoside in visceral tissues, and some oligosaccharides. Incidence and carrier frequency of sandhoff disease in.
About europe pmc funders joining europe pmc governance. Pdf gm2gangliosidosis is a rare and heterogeneous inherited metabolic disorder. Pdf miglustat therapy in juvenile sandhoff disease researchgate. Pdf gangliosides are the main glycolipids of neuronal plasma membranes. Sandhoff disease is a rare progressive neurodegenerative genetic. Juan martos 191 tratamientos actuales potencialmente eficaces del autismo dr. Paper presented at 11th world down syndrome congress, cape town, south africa. Mutations in the human hexb ortholog cause sandhoff disease, a type of.
980 1151 1671 1650 1178 71 549 1584 1613 1400 1485 1074 870 332 820 999 894 847 1191 203 961 579 551 1366 284 1674 1619 766 1036 593 767 193 592 785 1223 114 1320