Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bensaude I., Callahan J., Philippart M. Fabry's disease as an -galactosidosis: evidence for an -configuration in trihexosyl ceramide. Biochem Biophys Res Commun. 1971 May 21;43(4):913–918. doi: 10.1016/0006-291x(71)90704-2. [DOI] [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]
- Brady R. O. Genetics and the sphingolipidoses. Med Clin North Am. 1969 Jul;53(4):827–838. [PubMed] [Google Scholar]
- Dofuku R., Tettenborn U., Ohno S. Testosterone-"regulon" in the mouse kidney. Nat New Biol. 1971 Jul 7;232(27):5–7. doi: 10.1038/newbio232005a0. [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]
- Hamerton J. L., Richardson B. J., Gee P. A., Allen W. R., Short R. V. Non-random X chromosome expression in female mules and hinnies. Nature. 1971 Jul 30;232(5309):312–315. doi: 10.1038/232312a0. [DOI] [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]
- Krivit W., Desnick R. J., Mapes C., Anderson R. L., Sweeley C. C. Recent advances in Fabry's disease. Trans Assoc Am Physicians. 1970;83:121–132. [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]
- Ohno S., Dofuku R., Tettenborn U. More about X-linked testicular feminization of the mouse as a noninducible(is)mutation of a regulatory locus: 5-alpha-androstan-3-alpha-17-beta-diol as the true inducer of kidney alcohol dehydrogenase and beta-glucuronidase. Clin Genet. 1971;2(3):128–140. doi: 10.1111/j.1399-0004.1971.tb00268.x. [DOI] [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]
- SMITHIES O. An improved procedure for starch-gel electrophoresis: further variations in the serum proteins of normal individuals. Biochem J. 1959 Mar;71(3):585–587. doi: 10.1042/bj0710585. [DOI] [PMC free article] [PubMed] [Google Scholar]