Chemical chaperone therapy

Matsuda, J., Suzuki, O., Oshima, A. et al. Chemical chaperone therapy for brain pathology in GM1-gangliosidosis. Proc. Natl Acad. Sci. U.S.A. 100 15912-15917,2003. 

Prenatal diagnosis is available for all the sphingolipidoses. This makes an early and reliable diagnosis of the utmost importance. For many of the sphingolipidoses, symptomatic treatment in the form of bone marrow transplantation, enzyme replacement therapy, substrate reduction therapy, or chemical chaperone therapy is... 

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