Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: Identification of new case with novel mutation

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +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

The frequency of lysosomal storage diseases in The Netherlands

Ben J. H. M. Poorthuis, Ron A. Wevers, Wim J. Kleijer et al. · Human Genetics · 1999 · 725 citations

Life Sciences, Genetics, Pathology +9

α-Galactosidase A deficiency. Fabry disease

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

Life Sciences, Biochemistry, Genetics +5

Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

William R. Wilcox, João Paulo Oliveira, Robert J. Hopkin et al. · Molecular Genetics and Metabolism · 2007 · 539 citations

Medicine, Pathology, Systemic Pathology +2