Roscoe O. Brady

Enzyme Replacement Therapy in Fabry Disease

Raphael Schiffmann, Jeffrey B. Kopp, Howard A. Austin et al. · JAMA · 2001 · 1.3K citations

Medicine, Pharmacology, Pharmacotherapy +13

<scp>d</scp> -Serine is an endogenous ligand for the glycine site of the <i>N</i> -methyl- <scp>d</scp> -aspartate receptor

Jean‐Pierre Mothet, Angèle Parent, Herman Wolosker et al. · Proceedings of the National Academy of Sciences · 2000 · 1.1K citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Targeted disruption of the cyclin-dependent kinase 5 gene results in abnormal corticogenesis, neuronal pathology and perinatal death.

Toshio Ohshima, Jerrold M. Ward, C G Huh et al. · Proceedings of the National Academy of Sciences · 1996 · 897 citations

Life Sciences, Neurobiology, Neuroscience +15

Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease

Roscoe O. Brady, Julian N. Kanfer, David J. Shapiro · Biochemical and Biophysical Research Communications · 1965 · 805 citations

Life Sciences, Biochemistry, Molecular Biology +14

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

Johannes M. F. G. Aerts, J.E.M. Groener, Sijmen Kuiper et al. · Proceedings of the National Academy of Sciences · 2008 · 727 citations · Full text

Life Sciences, Biochemistry, Pathology +14