Article
GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.
American journal of medical genetics. Part A - 1 Jun 2011
Kaya Namik, Al-Owain Mohammad, Abudheim Nada, Al-Zahrani Jawaher, Colak Dilek, Al-Sayed Moeen, Milanlioglu Aysel, Ozand Pinar T, Alkuraya Fowzan S
Abstract excerpt
The GM2 gangliosidose, Tay-Sachs and Sandhoff diseases, are a class of lysosomal storage diseases in which relentless neurodegeneration results in devastating neurological disability and premature death. Primary prevention is the most effective intervention since no effective therapy is currently available. An extremely successful model for the prevention of GM2 gangliosidosis in the Ashkenazi Jewish community is...
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