Subject
General Medicine,Pediatrics, Perinatology and Child Health
Reference15 articles.
1. Desnick, R and Ioannou, Y and Eng, C.(2001) α-Galactosidase A deficiency: Fabry disease. In The metabolic and molecular basis of inherited disease8th ed. ( pp. 3733 - 74 ). New York : McGraw-Hill.
2. Mehta, A and Ricci, R and Widmer, U and Dehout, F and Garcia de Lorenzo, A and Kampmann, C and (2004) Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey Eur J Clin Invest, 34, pp. 236 - 42.
3. MacDermot, K and Holmes, A and Miners, A. (2001) Anderson–Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females J Med Genet, 38, pp. 769 - 75.
4. Schäfer, E and Baron, K and Widmer, U and Deegan, P and Neumann, H and Sunder-Plassmann, G and Thirty-four novel mutations of the GALA gene in 121 patients with Fabry disease Hum Mutat.
5. Altarescu, G and Goldfarb, L and Park, K and Kaneski, C and Jeffries, N and Litvak, S and (2001) Identification of fifteen novel mutations and genotype–phenotype relationship in Fabry disease Clin Genet, 60, pp. 46 - 51.
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