Concepedia

Robert J. Desnick

RJ

434

Publications

38.4K

Citations

104

H-Index

1970

Active since

Affiliations

Icahn School of Medicine at Mount Sinai(Current)

New York University

Mount Sinai Medical Center

University of California, San Francisco

University of Pennsylvania

Robert J. Desnick is an author at Icahn School of Medicine at Mount Sinai specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

1970–2024

434

Publications

434

Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease

Christine M. Eng, Nathalie Guffon, William R. Wilcox et al. · New England Journal of Medicine · 2001 · 1.5K citations · Full text

Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency

Bruce D. Gelb, Guo‐Ping Shi, Harold A. Chapman et al. · Science · 1996 · 1K citations

, , +19

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

Marco Spada, Severo Pagliardini, Makiko Yasuda et al. · The American Journal of Human Genetics · 2006 · 988 citations · Full text

, , +4

A Pharmacogenetic versus a Clinical Algorithm for Warfarin Dosing

Stephen E. Kimmel, Benjamin French, Scott E. Kasner et al. · New England Journal of Medicine · 2013 · 741 citations · Full text

Agalsidase-Beta Therapy for Advanced Fabry Disease

Maryam Banikazemi, Jan Bultas, Stephen Waldek et al. · Annals of Internal Medicine · 2007 · 564 citations

Rows per page

1–5 of 434