Manifestations of Fabry disease in placental tissue

Author:

Vedder A. C.,Strijland A.,Weerman M. A. vd Bergh,Florquin S.,Aerts J. M. F. G.,Hollak C. E. M.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference16 articles.

1. Bligh EG, Dyer WJ (1959) A rapid method of total lipid extraction and purification. Can J Biochem Physiol 37: 911–917.

2. 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.

3. Branton MH, Schiffmann R, Sabnis SG, et al (2002) Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 81: 122–138.

4. Desnick RJ, Ioannou YA, Eng ME (2001) α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn, Vol. 3. New York: McGraw-Hill, 3733–3774.

5. Elleder M, Poupetova H, Kozich V (1998) [Fetal pathology in Fabry’s disease and mucopolysaccharidosis type I]. Cesk Patol 34: 7–12.

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