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

Summary 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. Autopsy findings of hepatosplenomegaly, lymphadenopathy and ceroid‐rich foam cells raise...

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Veröffentlicht in:Journal of inherited metabolic disease 2006-08, Vol.29 (4), p.591-591
Hauptverfasser: Dvorakova, L., Sikora, J., Hrebicek, M., Hulkova, H., Bouckova, M., Stolnaja, L., Elleder, M.
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Sprache:eng
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