Nephrology Dialysis Transplantation · 1997 · 20 citations · 3 references
MedicineNephrologyPathologyHuman GeneticsRenal PathologyRenal PathophysiologyGlomerular DiseasesGlomerular PathophysiologyHereditary Kidney DiseasesHereditary Renal DiseasesRenal DiseaseRenal ImpairmentCerebral ComplicationsFabry DiseaseGenetic Glomerular DisordersGenetic Heterogeneity AnalysisHereditary Glomerular DiseasesKidney DiseasesRenal DisordersRenal Metabolic Disorders
Key words: Fabry disease; glomerular proteinuria; lipid involvement, and the third phase involves vascular,storage diseases; hereditary kidney diseases; glyco- cardiac, and cerebral disease and renal functionalsphingolipids; alpha-galactosidase A; angiokeratomas; deterioration.acroparaesthesias; corneal opacities Death occurs around the fifth decade from renal,cardiac, and cerebral complications. Nevertheless, clin-ical evidence supports phenotypic heterogeneity ofFabry’s disease, and genetic heterogeneity has been
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Ruth Kornreich, David F. Bishop, Robert J. Desnick · Journal of Biological Chemistry · 1990 · 137 citations · Full text