Article
Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2000
Yoldas Celik Merve, Yazici Havva, Erdem Fehime, Yuksel Yanbolu Ayse, Canda Ebru, Sezer Ebru, Kalkan Ucar Sema, Onay Huseyin, Ozkinay Ferda, Yildirim Sozmen Eser, Coker Mahmut
Abstract excerpt
BACKGROUND: Niemann-Pick type C (NPC) disease is a lysosomal storage disease with visceral organ involvement and neurological and psychiatric symptoms. This study presents the clinical and laboratory findings of NPC cases involving three novel variants. METHODS: The clinical and laboratory findings were reviewed retrospectively between February 2006 and December 2022. RESULTS: There were nine females and five...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.