Renal variant of Anderson-Fabry disease and bilateral renal cell carcinoma

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

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

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

Renal Pathology in Fabry Disease

Joseph Alroy, Sharda G. Sabnis, Jeffrey B. Kopp · Journal of the American Society of Nephrology · 2002 · 245 citations

Medicine, Genetics, Pathology +17

Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

Christine M. Eng, Grace A. Ashley, Tania S. Burgert et al. · PubMed · 1997 · 125 citations

Life Sciences, Genetics, Molecular Genetics +8