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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(More)
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females K D MacDermot, A Holmes, A H Miners EDITOR—Anderson-Fabry disease (AFD) is a sphingolipid storage disorder resulting from the deficiency of the lysosomal enzyme-galactosidase. Unlike most other lysosomal diseases, the inheritance is X linked.(More)
Asthma represents an area of significant unmet medical need, with few new drugs making it to the clinic in the past 50 years. Much asthma research is currently carried out in non-human models. However, as asthma is a uniquely human condition, it is difficult to translate findings from these models to efficacious therapies. Based on the results of a survey(More)
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