Remarkable variability in renal disease in a large Slovenian family with Fabry disease

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

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

α-Galactosidase A deficiency. Fabry disease

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

Life Sciences, Biochemistry, Genetics +5

Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype1

Shoichiro Nakao, Chihaya Kodama, Toshihiro Takenaka et al. · Kidney International · 2003 · 440 citations

Medicine, Molecular Genetics, Nephrology +12

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

Wolfgang von Scheidt, Christine M. Eng, Thomas Fitzmaurice et al. · New England Journal of Medicine · 1991 · 368 citations · Full text

Medicine, Biochemistry, Cardiology +14