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 |
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Format: | Artikel |
Sprache: | eng |
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