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

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 det...

وصف كامل

التفاصيل البيبلوغرافية

الحاوية / القاعدة:	Journal of Pediatric Research
المؤلفون الرئيسيون:	Ebru Canda, Havva Yazıcı, Esra Er, Sema Kalkan Uçar, Hüseyin Onay, Eser Sözmen, Ferda Özkınay, Mahmut Çoker
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	Ege University, Faculty of Medicine, Department of Pediatrics and Ege Children Foundation 2018-03-01
الموضوعات:	Hepatosplenomegaly interstitial pulmonary disease cytopenia acid sphingomyelinase
الوصول للمادة أونلاين:	http://jpedres.org/archives/archive-detail/article-preview/nitial-and-final-status-of-the-patients-with-niema/18751