Robert J. Desnick · American geneticist · YYNN

Robert J. Desnick

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American geneticist

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Works
9

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

scientific article

Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease

scientific article published on July 1, 1995

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease

scientific article published in January 2018

Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease

scientific article

The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease

scientific article

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial

scientific article published on 18 December 2006

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

scientific article

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

scientific article

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

scientific article

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Robert J. Desnick is an American human geneticist whose basic and translational research accomplishments include significant discoveries in genomics, pharmacogenetics, gene therapy, personalized medicine, and the treatment of genetic diseases. His translational research has led to the development of the enzyme replacement therapy (ERT) and the...

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