Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

THE USE OF CONFIDENCE OR FIDUCIAL LIMITS ILLUSTRATED IN THE CASE OF THE BINOMIAL

C. J. Clopper, E. S. Pearson · Biometrika · 1934 · 4.8K citations

Natural Sciences, Biostatistics, Mathematics +16

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

Medicine, Clinical Sciences, Pharmacology +14

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 · 1K citations · Full text

Life Sciences, Genetics, Pediatrics +13

Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry

Bridget Wilcken, Veronica Wiley, Judith Hammond et al. · New England Journal of Medicine · 2003 · 683 citations

Medicine, Pediatrics, Mass Spectrometric Analysis +14

Phenotype, diagnosis, and treatment of Gaucher's disease

Gregory A. Grabowski · The Lancet · 2008 · 635 citations

Life Sciences, Genetics, Molecular Medicine +10