Robert J. Desnick
Mount Sinai Health System(US)Mount Sinai Hospital(US)New York Consortium in Evolutionary Primatology(US)Icahn School of Medicine at Mount Sinai(US)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Porphyrin Metabolism and Disorders, Carbohydrate Chemistry and Synthesis, Neonatal Health and Biochemistry, Trypanosoma species research and implications
Most-Cited Works
- → Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease(2001)1,537 cited
- → Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency(1996)1,015 cited
- → High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*(2006)997 cited
- → Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy(2003)765 cited
- → A Pharmacogenetic versus a Clinical Algorithm for Warfarin Dosing(2013)744 cited
- → Fabry disease revisited: Management and treatment recommendations for adult patients(2018)626 cited