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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Ebru Canda, Havva Yazıcı, Esra Er, Sema Kalkan Uçar, Hüseyin Onay, Eser Sözmen, Ferda Özkınay, Mahmut Çoker
Format: Artigo
Sprache:Inglês
Veröffentlicht: Ege University, Faculty of Medicine, Department of Pediatrics and Ege Children Foundation 2018-03-01
Schriftenreihe:Journal of Pediatric Research
Schlagworte:
Hepatosplenomegaly
interstitial pulmonary disease
cytopenia
acid sphingomyelinase
Online-Zugang: http://jpedres.org/archives/archive-detail/article-preview/nitial-and-final-status-of-the-patients-with-niema/18751
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