Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry

Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's Disease

Norman W. Barton, Roscoe O. Brady, James M. Dambrosia et al. · New England Journal of Medicine · 1991 · 1.3K citations · Full text

Life Sciences, Biochemistry, Pharmacotherapy +17

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

Neal J. Weinreb, Joel Charrow, Hans C. Andersson et al. · The American Journal of Medicine · 2002 · 541 citations

Life Sciences, Genetics, Pharmacotherapy +9

Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications

Andreas Schulze, Martin Lindner, Dirk Kohlmüller et al. · PEDIATRICS · 2003 · 515 citations

Medicine, Pediatrics, Mass Spectrometric Analysis +16

Enzyme Therapy in Type 1 Gaucher Disease: Comparative Efficacy of Mannose-Terminated Glucocerebrosidase from Natural and Recombinant Sources

Gregory A. Grabowski · Annals of Internal Medicine · 1995 · 448 citations

Life Sciences, Biochemistry, Hematology +14

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset<i>GLA</i>mutation c.936+919G&gt;A (IVS4+919G&gt;A)

Wuh‐Liang Hwu, Yin‐Hsiu Chien, Ni‐Chung Lee et al. · Human Mutation · 2009 · 358 citations · Full text

Medicine, Genetics, Pediatrics +17