Fabry Disease in Females
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Publisher
Springer Netherlands
Link
http://link.springer.com/content/pdf/10.1007/978-90-481-9033-1_21
Reference61 articles.
1. Kint JA (1970) Fabry’s disease: alpha-galactosidase deficiency. Science 167:1268–1269
2. MacDermot KD, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38:769–775
3. Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M (2006) Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 43:347–352
4. Whybra C, Kampmann C, Willers I et al (2001) Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 24:715–724
5. Baehner F, Kampmann C, Whybra C, Miebach E, Wiethoff CM, Beck M (2003) Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. J Inherit Metab Dis 26:617–627
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1. Computer-assisted retinal vessel diameter evaluation in Fabry disease;European Journal of Ophthalmology;2019-11-13
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