Enzyme replacement and enhancement therapies for lysosomal diseases
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Journal Article
Conference Proceeding
Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes
Martis, S, Peter, I, Hulot, J-S, Kornreich, R, Desnick, R J, Scott, S A
Published in The pharmacogenomics journal (01.08.2013)
Published in The pharmacogenomics journal (01.08.2013)
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Journal Article
Increasing tamoxifen dose in breast cancer patients based on CYP2D6 genotypes and endoxifen levels: effect on active metabolite isomers and the antiestrogenic activity score
Barginear, M F, Jaremko, M, Peter, I, Yu, C, Kasai, Y, Kemeny, M, Raptis, G, Desnick, R J
Published in Clinical pharmacology and therapeutics (01.10.2011)
Published in Clinical pharmacology and therapeutics (01.10.2011)
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Journal Article
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
Schiffmann, Raphael, Warnock, David G., Banikazemi, Maryam, Bultas, Jan, Linthorst, Gabor E., Packman, Seymour, Sorensen, Sven Asger, Wilcox, William R., Desnick, Robert J.
Published in Nephrology, dialysis, transplantation (01.07.2009)
Published in Nephrology, dialysis, transplantation (01.07.2009)
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Journal Article
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, Lockhart, D. J, Valenzano, K. J
Published in Journal of inherited metabolic disease (01.06.2009)
Published in Journal of inherited metabolic disease (01.06.2009)
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Journal Article
Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials
McGovern, M M, Aron, A, Brodie, S E, Desnick, R J, Wasserstein, M P
Published in Neurology (24.01.2006)
Published in Neurology (24.01.2006)
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Journal Article
Identification of CYP2C194B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness
Scott, S A, Martis, S, Peter, I, Kasai, Y, Kornreich, R, Desnick, R J
Published in The pharmacogenomics journal (01.08.2012)
Published in The pharmacogenomics journal (01.08.2012)
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Journal Article
Many pitfalls in diagnosis of acute intermittent porphyria: a case report
Indika, N L R, Kesavan, T, Dilanthi, H W, Jayasena, K L S P K M, Chandrasiri, N D P D, Jayasinghe, I N, Piumika, U M T, Vidanapathirana, D M, Gunarathne, K D A V, Dissanayake, M, Jasinge, E, Arachchi, W Kodikara, Doheny, D, Desnick, R J
Published in BMC research notes (02.08.2018)
Published in BMC research notes (02.08.2018)
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Journal Article
Exome sequencing of extreme clopidogrel response phenotypes identifies B4GALT2 as a determinant of on-treatment platelet reactivity
Scott, S A, Collet, J-P, Baber, U, Yang, Y, Peter, I, Linderman, M, Sload, J, Qiao, W, Kini, A S, Sharma, S K, Desnick, R J, Fuster, V, Hajjar, R J, Montalescot, G, Hulot, J-S
Published in Clinical pharmacology and therapeutics (01.09.2016)
Published in Clinical pharmacology and therapeutics (01.09.2016)
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Journal Article
X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria
Brancaleoni, V., Balwani, M., Granata, F., Graziadei, G., Missineo, P., Fiorentino, V., Fustinoni, S., Cappellini, M.D., Naik, H., Desnick, R.J., Di Pierro, E.
Published in Clinical genetics (01.01.2016)
Published in Clinical genetics (01.01.2016)
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Journal Article
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
Ness, S L, Ben-Yosef, T, Bar-Lev, A, Madeo, A C, Brewer, C C, Avraham, K B, Kornreich, R, Desnick, R J, Willner, J P, Friedman, T B, Griffith, A J
Published in Journal of medical genetics (01.10.2003)
Published in Journal of medical genetics (01.10.2003)
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Journal Article
A Phase 1/2 Clinical Trial of Enzyme Replacement in Fabry Disease: Pharmacokinetic, Substrate Clearance, and Safety Studies
Eng, Christine M., Banikazemi, Maryam, Gordon, Ronald E., Goldman, Martin, Phelps, Robert, Kim, Leona, Gass, Alan, Winston, Jonathan, Dikman, Steven, Fallon, John T., Brodie, Scott, Stacy, Charles B., Mehta, Davendra, Parsons, Rosaleen, Norton, Karen, O’Callaghan, Michael, Desnick, Robert J.
Published in American journal of human genetics (01.03.2001)
Published in American journal of human genetics (01.03.2001)
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Journal Article
Niemann–Pick disease: Sixteen‐year follow‐up of allogeneic bone marrow transplantation in a type B variant
Victor, S., Coulter, J. B. S., Besley, G. T. N., Ellis, I., Desnick, R. J., Schuchman, E. H., Vellodi, A.
Published in Journal of inherited metabolic disease (01.01.2003)
Published in Journal of inherited metabolic disease (01.01.2003)
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Journal Article
Mucopolysaccharidosis I: α‐L‐Iduronidase mutations in three Tunisian families
Laradi, S., Tukel, T., Erazo, M., Shabbeer, J., Chkioua, L., Khedhiri, S., Ferchichi, S., Chaabouni, M., Miled, A., Desnick, R. J.
Published in Journal of inherited metabolic disease (01.12.2005)
Published in Journal of inherited metabolic disease (01.12.2005)
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Journal Article