Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes
Desnick, R.J.; Allen, K.Y.; Desnick, S.J.; Raman, M.K.; Bernlohr, R.W.; Krivit, W.
Journal of Laboratory and Clinical Medicine 81(2): 157-171
1973
ISSN/ISBN: 0022-2143 PMID: 4683418 Document Number: 62468
Document emailed within 1 workday
Related Documents
Wu, K-Hsing.; Tzung, T-Yi.; Ro, L-Sun.; Hsiao, K-Jen. 2004: A novel mutation (c. 1072_1074delGAG) in the alpha-galactosidase gene of a Taiwanese family with Fabry disease Acta Dermato-Venereologica 84(4): 310-311Mazzachi, B.C.; Peake, M.J.; Ehrhardt, V. 2000: Reference Range and Method Comparison Studies for Enzymatic and Jaffà © Creatinine Assays in Plasma and Serum and Early Morning Urine Clinical Laboratory 46(1-2): 53-55
Suzuki, I.; Kushida, H.; Shida, H. 1970: Mammalian glycosidases. IV. Characterization of alpha-D-mannosidase, alpha-D-glucosidase and beta-D-galactosidase and other various glycosidase activities in organs of rabbits and cats Seikagaku. Journal of Japanese Biochemical Society 42(7): 361-371
Pöge, A.W.; Schwokowski, C.F. 1976: Exocrine pancreatic diagnosis. 1. Diagnostic value, methodological aspects and stability of lipase and alpha-amylase-activity in the serum and urine Zeitschrift für Arztliche Fortbildung 70(3): 105-112
Beyer, C. 1993: Creatine measurement in serum and urine with an automated enzymatic method Clinical Chemistry 39(8): 1613-1619
El-Haieg, M.O.; Enein, M.M.; Mustafa, M.A.; el-Khodary, M.I.; Refaat, M.A.; Ibrahim, I.A.; Abul-Fadl, M.A. 1978: Studies on certain serum enzymatic activities in hepatosplenic bilharziasis Egyptian Journal of Bilharziasis 5(1-2): 19-28
Vincent-Viry, M.; Galteau, M.M.; Sarhan, F.; Siest, G. 1978: Comparative effects of antiepileptics on the alkaline phosphatase and gamma glutamyltransferase activities in plasma and leukocytes Comptes Rendus des Seances de la Societe de Biologie et de ses Filiales 172(4): 734-743
Mendel'son, M.M.; Livandovskiĭ, I.A.; Vidershaĭn, G.I.; Bruk, E.I.; Il'ina, G.S. 1987: Diagnosis of Fabry's disease Terapevticheskii Arkhiv 59(8): 137-141
Yazawa, S.; Takeya, A.; Hosomi, O.; Nakajima, T.; Shimoda, N.; Ohi, H.; Tachikawa, T.; Piscorz, C.F.; Jain, R.K.; Matta, K.L. 1992: Use of synthetic H disaccharides as acceptors for detecting activities of UDP-GalNAc:Fuc alpha 1-->2Gal beta-R alpha 1-->3-N-acetylgalactosaminyltransferase in plasma samples from blood group a subgroups Clinical Chemistry 38(12): 2392-2395
Debré, P.; Hakim, J.; Schlegel, N.; Boucherot, J.; Troube, H.; Boivin, P. 1974: Functional and enzymatic activities of blood granulocytes in patients with monoclonal serum immunoglobulin Nouvelle Revue Francaise d'Hematologie 14(2): 314-324
Izpisúa, J.C.; Barber, T.; Cabo, J.; Hrelia, S.; Rossi, C.A.; Parenti Castelli, G.; Lercker, G.; Biagi, P.L.; Bordoni, A.; Lenaz, G. 1989: Lipid composition, fluidity and enzymatic activities of rat liver plasma and mitochondrial membranes in dietary obese rats International Journal of Obesity 13(4): 531-542
Nagamatsu, Y.; Okamoto, U.; Tsuda, Y.; Okada, Y.; Amemiya, T. 1987: Enzymatic properties of human leukocyte elastase complexed to alpha 2-macroglobulin: increases in amidolytic and fibrinolytic activities on incubation Nihon Ketsueki Gakkai Zasshi: Journal of Japan Haematological Society 50(1): 148-157
Basu, S.; Kindahl, H.; Harvey, D.; Betteridge, K.J. 1987: Metabolites of PGF2 alpha in blood plasma and urine as parameters of PGF2 alpha release in cattle Acta Veterinaria Scandinavica 28(3-4): 409-420
Le Charpentier, Y.; Le Charpentier, M.; Abelanet, R.; Crouzet, J.; Bennett, B.; Lessana-Leibowitch, M.; Di Crescenzo, M.C. 1979: Fabry's disease without angiokeratoma. Diagnosis by ultrastructural study of the skin La Nouvelle Presse Medicale 8(23): 1944
Merkler, M.; Pećin, I.; Simić, I.; Muacević-Katanec, D.; Sućur, N.; Reiner, Z. 2014: Fabry disease--guidelines for diagnosis and management of adult patients Lijecnicki Vjesnik 136(5-6): 133-135
Bloomfield, S.E.; David, D.S.; Rubin, A.L. 1978: Eye findings in the diagnosis of Fabry's disease. Patients with renal failure JAMA 240(7): 647-649
Maben, P.; Evans, R.; Lin, J.; Vaughan, D. 1983: Endomyocardial biopsy. Diagnosis of Fabry's disease in congestive cardiomyopathy Journal of the Kansas Medical Society 84(11): 556-557
Amico, L.; Visconti, G.; Amato, A.; Azzolina, V.; Sessa, A.; Li Vecchi, M. 2005: Anderson-Fabry disease: a protean clinical behavior and a chance diagnosis Journal of Nephrology 18(6): 770-772
Balduyck, M.; Mizon, J. 1991: Inter-alpha-trypsin inhibitor and its plasma and urine derivatives Annales de Biologie Clinique 49(5): 273-281
Wen, J.; Luo, Y.; Shen, W. 1999: A study on digestion of Gal alpha (1,3) Gal on porcine vascular endothelial cells by alpha-galactosidase Hua Xi Yi Ke da Xue Xue Bao 30(2): 123-125