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Example text
In about 20% of hétérozygote carriers, skin manifestations are present as is, in some cases, mild to severe renal insufficiency. Typical lipid deposits have been found in renal glomeruli, Henle's loops and distal tubules of carriers (Colley et al, 1958; McNary & Lowenstein, 1965; Rae, etal, 1967). Hypertension, cardiac insufficiency and chronic nephritis have also been observed in some hétérozygote females. Both intrafamilial and interfamilial variations in clinical expression have been observed in Fabry's disease (Jensen, 1966; Johnston et al, 1968).
136, 351-359. Hultberg, B. (1969) N-acetylhexosaminidase activities in Tay-Sachs disease. Lancet 2, 1195. Jensen, E. (1966) On the pathology of angiokeratoma corporis diffusum (Fabry). Acta Path. Microbiol. Scand. 68, 313-331. Johnston, A. , Weller, S. D. & Warland, B. J. (1968) Angiokeratoma corporis diffusum. Some clinical aspects. Arch. Dis. Child. 43, 73-79. Kanfer, J. , Shapiro, D. & Brady, R. O. (1966) The metabolism of sphingomyelin. I. Purification and properties of a sphingomyelin cleaving enzyme.
Clin. Genet. 3, 411434. Okada, S. & O'Brien, J. S. -galactosidase deficiency. Science, 160, 1002-1004. Okada, S. & O'Brien, J. (1969) Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component. Science, 165, 698-700. Opitz, J. (1964) Angiokeratoma corporis diffusum. Arch.