1. Niemann-Pick hastalaca tip A ve tip B: İki olgu sunumu.
- Author
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ZORLU, Pelin, UÇAR, Şit, YARALI, Nece, and DEMİRÇEKEN, Fulya
- Subjects
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SPHINGOLIPIDOSES , *ACADEMIC medical centers , *BLOOD testing , *CASE studies , *DIAGNOSIS , *NIEMANN-Pick diseases - Abstract
Niemann-Pick disease is an autosomal recessively inherited group of congenital lipidoses in which sphingolipids accumulate in certain tissues, especially reticuloendothelial cells. The clinical phenotype is extremely variable, ranging from an acute neonatal form, to an adult late-onset form. We presented two patients who admitted to our clinic with hepatosplenomegaly and diagnosed as Niemann-Pick disease type A and type B. [ABSTRACT FROM AUTHOR]
- Published
- 2014
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