Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience
Makaleler > Tam Makale · 2018
Yazarlar: Ebru CANDA, Havva YAZICI, Esra Er, Sema KALKAN UÇAR, HÜSEYİN ONAY, Eser YILDIRIM SÖZMEN, Feriştah Ferda ÖZKINAY, Mahmut ÇOKER
JOURNAL OF PEDIATRIC RESEARCH, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2018, cilt 5, ss 22-27
DOI: 10.4274/jpr.75046
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.