Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- 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]
- Brady R. O., Uhlendorf B. W., Jacobson C. B. Fabry's disease: antenatal detection. Science. 1971 Apr 9;172(3979):174–175. doi: 10.1126/science.172.3979.174. [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]
- Handa S., Ariga T., Miyatake T., Yamakawa T. Presence of alpha-anomeric glycosidic configuration in the glycolipids accumulated in kidney with Fabry's disease. J Biochem. 1971 Mar;69(3):625–627. [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]
- LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
- Mapes C. A., Anderson R. L., Sweeley C. C., Desnick R. J., Krivit W. Enzyme replacement in Fabry's disease, an inborn error of metabolism. Science. 1970 Sep 4;169(3949):987–989. doi: 10.1126/science.169.3949.987. [DOI] [PubMed] [Google Scholar]
- Matalon R., Dorfman A., Dawson G., Sweeley C. C. Glycolipid and mucopolysaccharide abnormality in fibroblasts of fabry's disease. Science. 1969 Jun 27;164(3887):1522–1523. doi: 10.1126/science.164.3887.1522. [DOI] [PubMed] [Google Scholar]
- Okada S., O'Brien J. S. Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component. Science. 1969 Aug 15;165(3894):698–700. doi: 10.1126/science.165.3894.698. [DOI] [PubMed] [Google Scholar]
- Porter M. T., Fluharty A. L., Kihara H. Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures. Proc Natl Acad Sci U S A. 1969 Mar;62(3):887–891. doi: 10.1073/pnas.62.3.887. [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]