Concepedia

Desnick Rj

DR

11

Publications

355

Citations

11

H-Index

1971

Active since

Affiliations

Mount Sinai Medical Center(Current)

Desnick Rj is an author at Mount Sinai Medical Center specializing in medicine, pathology, and biochemistry.

Top concepts

MedicinePathologyBiochemistryUrologyGeneticsNephrologyBioanalysisRenal PathologyNatural SciencesKidney Transplant

Publications per year

1971–2016

11

Publications

11

Correction of enzymatic deficiencies by renal transplantation: Fabry's disease.

Desnick Rj, Simmons Rl, Allen Ky et al. · PubMed · 1972 · 92 citations

Transplantation Surgery, Urology, Kidney Transplant +8

Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients

Orna Levran, Desnick Rj, EH Schuchman · Blood · 1992 · 71 citations · Full text

Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): status 40 months after BMT.

McGovern Mm, Mark D. Ludman, Short Mp et al. · PubMed · 1986 · 34 citations

Maroteaux-lamy Syndrome, Transplantation, Marrow Transplantation +7

The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease.

Ruth Kornreich, Bishop Df, Desnick Rj · PubMed · 1989 · 28 citations

Biology, Fabry Disease, Gene Rearrangements +9

Exome sequencing of extreme clopidogrel response phenotypes identifies <i>B4GALT2</i> as a determinant of on‐treatment platelet reactivity

JP Collet, Usman Baber, Yuejin Yang et al. · Clinical Pharmacology & Therapeutics · 2016 · 27 citations

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