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Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C

WE DESCRIBE FOUR PATIENTS WITH NIEMANN—Pick disease type C (NPC), in whom the presentation was isolated splenic enlargement; this remained the only abnormality for a number of years. Diagnosis can be suggested by either finding abnormal storage material in a tissue biopsy specimen or by showing a mo...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Imrie, J, Wraith, J
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 2001
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1718763/
https://ncbi.nlm.nih.gov/pubmed/11316691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/adc.84.5.427
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