Author:
Germain Dominique P.,Shabbeer Junaid,Cotigny Sylvie,Desnick Robert J.
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine
Reference29 articles.
1. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. (1967) Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N. Engl. J. Med. 276: 1163–1167.
2. Kint JA. (1970) Fabry’s disease: alpha-Galactosidase deficiency. Science 167: 1268–1269.
3. Desnick RJ, Ioannou YA, Eng CM. (2001) α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B (eds). The Metabolic and Molecular Bases of Inherited Disease. 8th ed., New York: McGraw-Hill; 3733–3774.
4. von Scheidt W, Eng CM, Fitzmaurice TF, et al. (1991) An atypical variant of Fabry’s disease with manifestations confined to the myocardium. N. Engl. J. Med. 324: 395–399.
5. Nakao S, Takenaka T, Maeda M, et al. (1995) An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N. Engl. J. Med. 333: 288–293.
Cited by
67 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献