Desnick, Robert J

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

Grody, W. W., Cutting, G. R., Klinger, K. W., Richards, C. S., Watson, M. S., & Desnick, R. J. (2001) · Genetics in Medicine

Cystic Fibrosis Research AdvancesGenomics and Rare Diseases

Cited by 456

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

Hui, K. Y., Fernandez-Hernandez, H., Hu, J., Schaffner, A., Pankratz, N., Hsu, N.-Y., Chuang, L.-S., Carmi, S., Villaverde, N., Li, X., et al. (2018) · Science Translational Medicine

Parkinson's Disease Mechanisms and TreatmentsInflammatory Bowel Disease

Cited by 384

Purification and properties of delta-aminolevulinate dehydrase from human erythrocytes.

Anderson, P. M., & Desnick, R. J. (1979) · Journal of Biological Chemistry

Porphyrin Metabolism and DisordersNeonatal Health and Biochemistry

Cited by 175

The pharmacological chaperone 1‐deoxygalactonojirimycin increases α‐galactosidase A levels in Fabry patient cell lines

Benjamin, E. R., Flanagan, J. J., Schilling, A., Chang, H. H., Agarwal, L., Katz, E., Wu, X., Pine, C., Wustman, B., Desnick, R. J., et al. (2009) · Journal of Inherited Metabolic Disease

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 173

Preclinical development of a subcutaneous ALAS1 RNAi therapeutic for treatment of hepatic porphyrias using circulating RNA quantification

Chan, A., Liebow, A., Yasuda, M., Gan, L., Racie, T., Maier, M., Kuchimanchi, S., Foster, D., Milstein, S., Charisse, K., et al. (2015) · Molecular Therapy — Nucleic Acids

Porphyrin Metabolism and DisordersRNA Interference and Gene Delivery

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