Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience


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Canda E., Yazici H., Er E., Ucar S. K. , Onay H. , Sozmen E. , et al.

JOURNAL OF PEDIATRIC RESEARCH, cilt.5, ss.22-27, 2018 (ESCI İndekslerine Giren Dergi)

  • Cilt numarası: 5 Konu: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/jpr.75046
  • Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
  • Sayfa Sayısı: ss.22-27

Özet

Aim: Niemann-Pick disease (NPD) is a lysosomal storage disease caused by an insufficient activity of acid sphingomyelinase (ASM) resulting in the accumulation of sphingomyelin. Type A is an infantile neurovisceral fatal form characterized by hepatosplenomegaly and rapidly progressive neurological deterioration, while the Type B non-neuronopathic disease presents visceral form and sufferers usually survive into adulthood.