Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study

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

Enzyme Replacement Therapy in Fabry Disease

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

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 · 988 citations · Full text

Mendelian Disorder, Pediatrics, Prenatal Diagnosis +4

Agalsidase-Beta Therapy for Advanced Fabry Disease

Maryam Banikazemi, Jan Bultas, Stephen Waldek et al. · Annals of Internal Medicine · 2007 · 564 citations

Long-Term Safety and Efficacy of Enzyme Replacement Therapyfor Fabry Disease

William R. Wilcox · The American Journal of Human Genetics · 2004 · 404 citations · Full text

Medicine, Pathology, Long-term Safety