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Natural history of the respiratory involvement in Anderson–Fabry disease

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  1. Article

    Open Access

    Subclinical course of adult visceral Niemann–Pick type C1 disease. A rare or underdiagnosed disorder?

    We present the third case of Niemann–Pick disease type C without neurological symptoms. The patient was a 53-year-old woman without significant prior health problems who died of acute pulmonary embolism. Autop...

    L. Dvorakova, J. Sikora, M. Hrebicek, H. Hulkova in Journal of Inherited Metabolic Disease (2006)