Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males.

@article{Macdermot2001AndersonFabryDC,
  title={Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males.},
  author={K Macdermot and Anthony Holmes and Alec Miners},
  journal={Journal of medical genetics},
  year={2001},
  volume={38 11},
  pages={750-60}
}
OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The first large cross sectional study of a patient cohort from the AFD clinical and genetic register (UK), maintained for the last 15 years. MEASURES Prevalence, mortality, frequency of AFD manifestations, and impact of disease on patient lives, assessed from the AFD register and the disease specific questionnaire. RESULTS The median… CONTINUE READING
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