R J Desnick

α-Galactosidase A deficiency. Fabry disease

R J Desnick · Medical Entomology and Zoology · 2001 · 581 citations

Life Sciences, Biochemistry, Genetics +5

Natural history of Type A Niemann-Pick disease

Margaret M. McGovern, Alan M. Aron, Scott E. Brodie et al. · Neurology · 2006 · 167 citations

Medicine, Neurology, Pediatrics +13

Pulmonary Involvement in Fabry Disease

Lee K. Brown, Anton R. Miller, Anand Bhuptani et al. · American Journal of Respiratory and Critical Care Medicine · 1997 · 94 citations

Medicine, Clinical Sciences, Internal Medicine +12

Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes.

R J Desnick, Kenneth J. Dean, Gregory A. Grabowski et al. · Proceedings of the National Academy of Sciences · 1979 · 88 citations · Full text

Life Sciences, Biochemistry, Pharmacokinetics +12

Pulmonary involvement in Type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease

Albert Miller, L K Brown, GM Pastores et al. · Clinical Genetics · 2003 · 66 citations

Medicine, Clinical Sciences, Internal Medicine +15