New PDF release: Biochemistry of Brain

By Sudhir Kumar (Eds.)

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7, 69-80. Dale, G. , Villacorte, D. G. & Beutler, E. (1976) Solubilization of glucocerebrosidase from human placenta and demonstration of a phospholipid requirement for its catalytic activity. Biochem. Biophys. Res. Commun. 71, 1048-1053. , Maltón, R. & Stein, A. O. (1971) Lactosylceramidosis: lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in skin fibroblasts. / . Pediat. Res. 79, 423^29. de Duve, C , Pressman, B. , Wattiaux, R. & Appelmans, F. (1955) Tissue fractionation studies.

Kint (1970) provided the first definite evidence that leukocytes of Fabry's disease patients have normal jS-galactosidase activity and that only a-galactosidase is missing or severely deficient. Romeo and Migeon (1970), using leukocytes and fibroblasts, have confirmed these observation. These investigators have also made an interesting observation that the skin fibroblasts from the female carriers have two distinct clonal populations of the cells, one having no a-galactosidase activity and the other having the 36 SATISH K.

Niemann, A. (1914) Ein unbekanntes Krankheitsbild. Jahrb. Kinderheilh. 79, 1. Norden, A. G. W. & O'Brien, J. S. -galactosidase : Studies in human liver and brain. Arch. Biochem. 159, 383-392. METABOLIC DISORDERS IN SPHINGOLIPIDOSES 45 Norden, A. G. , Tennant, L. & O'Brien, J. S. -galactosidase A. Purification and studies of the enzyme from human liver. J. Biol. Chem. 249, 7969-7976. Norman, R. , Tingey, A. H. & Goodbody, R. A. (1959) Tay-Sachs disease with visceral involvement and its relationship to Niemann-Pick's disease.

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