Plasma globotriaosylsphingosine as a biomarker of Fabry disease

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

An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy

Shoichiro Nakao, Toshihiro Takenaka, Masato Maeda et al. · New England Journal of Medicine · 1995 · 765 citations · Full text

Medicine, Cardiology, Genetics +10

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

α-Galactosidase A deficiency. Fabry disease

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

Life Sciences, Biochemistry, Genetics +5