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Feldt-Rasmussen U, Rasmussen AK, Mersebach H, Rosenberg KM, Hasholt L, Sorensen SA. Fabry disease--a metabolic disorder with a challenge for endocrinologists? Horm Res. 2002;58(6):259-65. Review.
Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol. 2004 Mar 19;337(2):319-35.
Gene Review: Fabry
Matsuzawa F, Aikawa S, Doi H, Okumiya T, Sakuraba H. Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes. Hum Genet. 2005 Aug;117(4):317-28. Epub 2005 May 28.
Pastores GM, Lien YH. Biochemical and molecular genetic basis of Fabry disease. J Am Soc Nephrol. 2002 Jun;13 Suppl 2:S130-3. Review.
Schäfer E, Baron K, Widmer U, Deegan P, Neumann HP, Sunder-Plassmann G, Johansson JO, Whybra C, Ries M, Pastores GM, Mehta A, Beck M, Gal A. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. Hum Mutat. 2005 Apr;25(4):412.
: March 2007
: March 23, 2015
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