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- Beutler E., Kuhl W. Biochemical and electrophoretic studies of -galactosidase in normal man, in patients with Fabry's disease, and in Equidae. Am J Hum Genet. 1972 May;24(3):237–249. [PMC free article] [PubMed] [Google Scholar]
- Brady R. O., Gal A. E., Bradley R. M., Martensson E., Warshaw A. L., Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967 May 25;276(21):1163–1167. doi: 10.1056/NEJM196705252762101. [DOI] [PubMed] [Google Scholar]
- Goldstone A., Konecny P., Koenig H. Lysosomal hydrolases: Conversion of acidic to basic forms by neuraminidase. FEBS Lett. 1971 Feb 12;13(1):68–72. doi: 10.1016/0014-5793(71)80667-1. [DOI] [PubMed] [Google Scholar]
- Hakomori S. I., Siddiqui B., Li Y. T., Li S. C., Hellerqvist C. G. Anomeric structure of globoside and ceramide grihexoside of human erythrocytes and hamster fibroblasts. J Biol Chem. 1971 Apr 10;246(7):2271–2277. [PubMed] [Google Scholar]
- Ho M. W., O'Brien J. S. Differential effect of chloride ions on -galactosidase isoenzymes: a method for separate assay. Clin Chim Acta. 1971 May;32(3):443–450. doi: 10.1016/0009-8981(71)90446-3. [DOI] [PubMed] [Google Scholar]
- Ho M. W., O'Brien J. S. Gaucher's disease: deficiency of 'acid' -glucosidase and reconstitution of enzyme activity in vitro. Proc Natl Acad Sci U S A. 1971 Nov;68(11):2810–2813. doi: 10.1073/pnas.68.11.2810. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Ho M. W., Seck J., Schmidt D., Veath M. L., Johnson W., Brady R. O., O'Brien J. S. Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts. Am J Hum Genet. 1972 Jan;24(1):37–45. [PMC free article] [PubMed] [Google Scholar]
- Kint J. A. Fabry's disease: alpha-galactosidase deficiency. Science. 1970 Feb 27;167(3922):1268–1269. doi: 10.1126/science.167.3922.1268. [DOI] [PubMed] [Google Scholar]
- Robinson D., Stirling J. L. N-Acetyl-beta-glucosaminidases in human spleen. Biochem J. 1968 Apr;107(3):321–327. doi: 10.1042/bj1070321. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Romeo G., Migeon B. R. Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease. Science. 1970 Oct 9;170(3954):180–181. doi: 10.1126/science.170.3954.180. [DOI] [PubMed] [Google Scholar]
- SWEELEY C. C., KLIONSKY B. FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID. J Biol Chem. 1963 Sep;238:3148–3150. [PubMed] [Google Scholar]
- Schibanoff J. M., Kamoshita S., O'Brien J. S. Tissue distribution of glycosphingolipids in a case of Fabry's disease. J Lipid Res. 1969 Sep;10(5):515–520. [PubMed] [Google Scholar]