Niemann-pick disease type a and type b: A report of two cases Niemann-Pick hastalığı tip A ve tip B: İki olgu sunumu


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Zorlu P., Uçar Ş., Yarali N. , Demirçeken F.

Marmara Medical Journal, vol.27, no.1, pp.54-57, 2014 (Refereed Journals of Other Institutions) identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 1
  • Publication Date: 2014
  • Doi Number: 10.5472/mmj.2013.02845.2
  • Title of Journal : Marmara Medical Journal
  • Page Numbers: pp.54-57
  • Keywords: Lipid storage disease, Niemann-Pick disease, Sphingomyelinase

Abstract

© 2014, Marmara University. All rights reserved.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.