Gaucher’s Disease: Prenatal and Post Natal Diagnostic Dilemma and Biochemical Aid - Case Series and Review of Literature
Mohammed Ismail Khan, Swathi Emmadisetty, Asna Yasmeen & Shahzeb Zaman · Journal of Advances in Medicine and Medical Research · 2016
Background: Gaucher’s Disease (GD) is a rare genetically inherited, autosomal recessive disorder. It is classified as a lysosomal storage disorder and is characterized by the accumulation of glycolipids. This is due to the deficiency of lysosomal hydrolase β – glucocerebrosidase....
Open access
Research Article
10.9734/BJMMR/2017/29680