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, cilt.27, sa.1, ss.54-57, 2014 (Scopus, TRDizin)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 1
  • Basım Tarihi: 2014
  • Doi Numarası: 10.5472/mmj.2013.02845.2
  • Dergi Adı: Marmara Medical Journal
  • Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.54-57
  • Anahtar Kelimeler: Lipid storage disease, Niemann-Pick disease, Sphingomyelinase
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Ankara Yıldırım Beyazıt Üniversitesi Adresli: Hayır

Özet

© 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.