Unusual renal presentation of Fabry disease in a female patient

Author:

Abaterusso Cataldo,De Biase Vincenzo,Salviati Alessandro,Fabris Antonia,Millardi Deborah,Tomei Paola,Bernich Patrizia,Lupo Antonio,Gambaro Giovanni

Publisher

Springer Science and Business Media LLC

Subject

Nephrology

Reference22 articles.

1. Asthon-Prolla, P. et al. Fabry disease: Twenty-two novel mutations in the α-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J. Invest. Med. 48, 227–235 (2000).

2. Desnick, R., Ioannou, Y. A. & Eng, C. M. α-galactosidase A deficiency: Fabry disease in The Metabolic and Molecular Basis of Inherited Disease (eds Scriver, C. et al.) 3733–3774 (New York, McGraw Hill, 2001).

3. MacDermot, K. D., Holmes, A. & Miners, A. H. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J. Med. Genet. 38, 769–775 (2001).

4. Eng, C. M. et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J. Inherit Metab. Dis. 30, 184–192 (2007).

5. Wang, R. Y., Lelis, A., Mirocha, J. & Wilcox, W. R. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet. Med. 9, 34–45 (2007).

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