International Center for Fabry Disease


Biochemical Research

  1. Lemansky P, Bishop DF, Desnick RJ, Hasilik A, von Figura K: Synthesis and processing of a-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease. J Biol Chem 262:2062, 1987.
  2. Kleijer WJ, Hussaarts-Odijk LM, Sacks ES, Jahoda MGJ, Niermeijer MF: Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi. Prenat Diag 7:283, 1987.
  3. Kundu SK, Diego I, Osovitz S, Marcus DM: Glycosphingolipids of human plasma. Arch Biochem Biophys 238:388, 1985.
  4. Bach G, Rosemann E, Karni A, Cohen T: Pseudodeficiency of a-galactosidase A. Clin Genet 21:59, 1982.
  5. Meuweissen SGM, Dingemans KP, Strijland A, Tager JM, Ooms BCH: Ultrastructural and biochemical liver analyses in Fabry's disease. Hepatology 2:263, 1982.
  6. Bishop DF, Desnick RJ: Affinity purification of a-galactosidase A from human spleen, placenta and plasma with elimination of pyrogen contamination. J Biol Chem 256:1307, 1981.
  7. Bishop DF, Kovac CR, Desnick RJ: Enzyme therapy XX: Further evidence for the differential in vivo fate of human splenic and plasma forms of a-galactosidase A in Fabry disease. Recovery of exogenous activity from hepatic tissue, in Callahan JW, Lowden JA (eds): Lysosomes and Lysosomal Storage Diseases. New York, NY: Raven Press, 1981, p 381.

Biochemical Sources 1961 - 1980

  1. Desnick RJ, Dean KJ, Grabowski GA, Bishop DF, Sweeley CC: Enzyme therapy XII: Enzyme therapy in Fabry's disease: Differential enzyme and substrate clearance kinetics of plasma and splenic a-galactosidase isozymes. Proc Natl Acad Sci USA 76:5326, 1979.
  2. Bishop DF, Sweeley CC: Plasma a-galactosidase A. Properties and comparisons with tissue a-galactosidases. Biochim Biophys Acta 525:399, 1978.
  3. Kusiak JW, Quirk JM, Brady RO, Mook GE: Purification and properties of the two major isozymes of a-galactosidase from human placenta. J Biol Chem 253:184, 1978.
  4. Johnson DL, Desnick RJ: Molecular pathology of Fabry's disease: Physical and kinetic properties of a-galactosidase A in cultured human endothelial cells. Biochim Biophys Acta 538:195, 1978.
  5. Rietra PJGM, Brouwer-Kelder EM, de Groot WP, Tager JM: The use of biochemical parameters for the detection of carriers of Fabry's disease. J Mol Med 1:237, 1976.
  6. Johnson DL, Del Monte MA, Cotlier E, Desnick RJ: Fabry disease: Diagnosis of hemizygotes and heterozygotes by a-galactosidase A activity in tears. Clin Chim Acta 63:81, 1975.
  7. Romeo G, Urso M, Piszcane A, Blum E, de Falco A, Ruffilli A: Residual activity of a-galactosidase A in Fabry's disease. Biochem Genet 13:615, 1975.
  8. Rietra PJGM, van den Bergh FAJTM, Tager JM: Properties of the residual a-galactosidase activity in the tissues of a Fabry hemizygote. Clin Chim Acta 62:401, 1975.
  9. Romeo G, Dimatteo G, D'urso M, Li S-C, Li Y-T: Characterization of human a-galactosidase A and B before and after neuraminidase treatment. Biochim Biophys Acta 391:349, 1975.
  10. Rietra PJGM, Molenaar JL, Hamers MN, Tager JM, Borst P: Investigation of the a-galactosidase deficiency in Fabry's disease using antibodies against the purified enzyme. Eur. J Biochem 46:89, 1974.
  11. Ho MW: Hydrolysis of ceramide trihexoside by a specific a-galactosidase from human liver. Biochem J 133:1, 1973.
  12. Beutler E, Kuhl W: Purification and properties of human a-galactosidases. J Biol Chem 247:7195, 1972.
  13. Desnick RJ, Dawson G, Desnick SJ, Sweeley CC, Krivit W: Diagnosis of glycosphingolipidoses by urinary sediment analysis. N Engl J Med 284:739, 1971.
  14. Mapes CA, Anderson RL, Sweeley CC, Desnick RJ, Krivit W: Enzyme replacement in Fabry's disease, an inborn error of metabolism. Science 169:987, 1970.
  15. Schibanoff JM, Kamoshita S, O'Brien JS: Tissue distribution of glycosphingolipids in a case of Fabry's disease. J Lipid Res 10:515, 1969.
  16. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L: Enzymatic defect in Fabry's disease: Ceramide trihexosidase deficiency. N Engl J Med 276:1163, 1967.
  17. Lou HOC: A biochemical investigation of angiokeratoma corporis diffusum. Acta Path Microbiol Scand 68:332, 1966.
  18. Sweeley CC, Klinosky B: Fabry's disease: Classification as a sphingolipidosis and partial characterization of a novel glycolipid. J Biol Chem 238:3148, 1963.