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2. Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease. Mayes JS, Scheerer JB, Sifers RN, Donaldson ML. Clin Chim Acta; 1981 May 05; 112(2):247-51. PubMed ID: 6263521 [Abstract] [Full Text] [Related]
3. Detection of Fabry's disease heterozygotes by enzyme analysis in single fibroblasts after cell sorting. Jongkind JF, Verkerk A, Niermeijer MF. Clin Genet; 1983 Apr 05; 23(4):261-6. PubMed ID: 6303650 [Abstract] [Full Text] [Related]
4. Metabolism of ceramide trihexoside in cultured skin fibroblasts from Fabry's patients, carriers and normal controls. Kobayashi T, Shinnoh N, Kuroiwa Y. J Neurol Sci; 1984 Aug 05; 65(2):169-77. PubMed ID: 6090593 [Abstract] [Full Text] [Related]
5. Detection of Fabry's disease carriers by enzyme assay of hair roots. Hatton CE, Cooper A, Sardharwalla IB. J Inherit Metab Dis; 1989 Aug 05; 12 Suppl 2():369-71. PubMed ID: 2556612 [No Abstract] [Full Text] [Related]
6. Detection of Fabry's disease heterozygotes by hair root analysis. Beaudet AL, Caskey CT. Clin Genet; 1978 Mar 05; 13(3):251-8. PubMed ID: 205381 [Abstract] [Full Text] [Related]
8. The fate of internalized alpha-2-macroglobulin: alpha-galactosidase conjugate in fibroblasts from Fabry's hemizygote. Osada T, Kuroda Y, Ikai A. Biochem Biophys Res Commun; 1987 Mar 30; 143(3):954-8. PubMed ID: 2436620 [Abstract] [Full Text] [Related]
9. Loss of electron-dense lamellar material from Fabry's disease fibroblasts after enzyme replacement. Sifers RN, Mayes JS, Nordquist RE. Hum Genet; 1983 Mar 30; 65(1):85-7. PubMed ID: 6315565 [Abstract] [Full Text] [Related]
10. Molecular pathology of Fabry's disease. Physical and kinetic properties of alpha-galactosidase A in cultured human endothelial cells. Johnson DL, Desnick RJ. Biochim Biophys Acta; 1978 Jan 18; 538(2):195-204. PubMed ID: 23178 [No Abstract] [Full Text] [Related]
11. Fabry's disease: biochemical and histochemical studies on hair roots for carrier detection. Vermorken AJ, Weterings PJ, Spierenburg GT, vanBennekom CA, Wirtz P, deBruyn CH, Oei TL. Br J Dermatol; 1978 Feb 18; 98(2):191-6. PubMed ID: 204324 [Abstract] [Full Text] [Related]
12. Relationship of the multiple forms of human alpha-D-galactosidase and alpha-D-fucosidase in the normal and in Fabry's disease. Beyer E, Schono N, Kozlova I, Wiederschain G. Biochim Biophys Acta; 1990 May 08; 1038(3):386-9. PubMed ID: 2160280 [Abstract] [Full Text] [Related]
13. A microtechnique for quantitative measurements of acid hydrolases in fibroblasts. Its application in diagnosis of Fabry disease and enzyme replacement studies. Hasholt L, Sørensen SA. Clin Chim Acta; 1984 Sep 29; 142(2):257-61. PubMed ID: 6094040 [No Abstract] [Full Text] [Related]
14. Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease. Yoshitama T, Nakao S, Takenaka T, Teraguchi H, Sasaki T, Kodama C, Tanaka A, Kisanuki A, Tei C. Am J Cardiol; 2001 Jan 01; 87(1):71-5. PubMed ID: 11137837 [Abstract] [Full Text] [Related]
15. [Biochemical studies in Fabry's disease (author's transl)]. Handa S. Nihon Jinzo Gakkai Shi; 1978 Nov 01; 20(11):1212-4. PubMed ID: 219278 [No Abstract] [Full Text] [Related]
16. Whole-blood alpha-D-galactosidase A activity for the identification of Fabry's patients. Massaccesi L, Burlina A, Baquero CJ, Goi G, Burlina AP, Tettamanti G. Clin Biochem; 2011 Jul 01; 44(10-11):916-21. PubMed ID: 21515249 [Abstract] [Full Text] [Related]
17. Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients. Tanaka M, Ohashi T, Kobayashi M, Eto Y, Miyamura N, Nishida K, Araki E, Itoh K, Matsushita K, Hara M, Kuwahara K, Nakano T, Yasumoto N, Nonoguchi H, Tomita K. Clin Nephrol; 2005 Oct 01; 64(4):281-7. PubMed ID: 16240899 [Abstract] [Full Text] [Related]
19. Endocytotic internalization of alpha-2-macroglobulin: alpha-galactosidase conjugate by cultured fibroblasts derived from Fabry hemizygote. Osada T, Kuroda Y, Ikai A. Biochem Biophys Res Commun; 1987 Jan 15; 142(1):100-6. PubMed ID: 2434088 [Abstract] [Full Text] [Related]
20. An example of rapid prenatal diagnosis of Fabry's disease using microtechniques. Galjaard H, Niermeijer MF, Hahnemann N, Mohr J, Sorensen SA. Clin Genet; 1974 Jan 15; 5(4):368-77. PubMed ID: 4211797 [No Abstract] [Full Text] [Related] Page: [Next] [New Search]