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Research Article Open access CC BY 4.0

Niemann Pick Disease – Rare Cause of Chronic Liver Disease-Case Series

Raja Taha Yaseen Khan, Ghous Bux Soomro, Sandeep Kumar, Hina Ismail, Arshad Ali Jariko, Mahboob Jan, Ghazi Abrar, Danish Kumar, Munir Tareen, Muhammad Qaiser Panezai, Abbas Ali Tasneem, Syed Mudassir Laeeq, Farina Hanif, Nasir Hasan Luck

Journal of Advances in Medicine and Medical Research · pp. 63–67 · Published 27 Apr 2022

10.9734/jammr/2022/v34i1131367

Abstract

Niemann pick disease refers to a group of autosomal recessive disorder lysosomal lipid storage disorders with a multisystem involvement with a wide variety of clinical manifestations. The pathogenesis of disease is yet to be defined clearly. Here, we report to you a series of two cases including that of a three-year old girl and a four-year old boy.

Niemann-pick disease hepatosplenomegaly genetic counseling

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