Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

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Inusha Panigrahi Author

InushaPanigrahi@gmail.com

Subjects of specialization
Gaucher Disease

Affiliation
MD, Department of Pediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

Biography

Inusha Panigrahi belongs to Department of Pediatrics, intrested in the field Lysosomal Storage Disorders (LSD); Gaucher Disease (GD); Acid β-glucosidase glucocerebrosidase enzyme from  Institute of Medical Education and Research (PGIMER), Chandigarh, India

Publications

Research Article Subscription

Mutational Analysis in Gaucher Disease: Implications in Genetic Counseling and Management.

Author(s):

Inusha Panigrahi, Jaswinder Kalra, Prasoon Goyad, Preeti Khetarpal and Anjana Munshi

Gaucher disease (GD) is the most common LSD worldwide. The disease is caused due to mutations in β-glucocerobrosidase (GBA) gene located on chromosome 1. The mutations results in the deficient activity of acid β-glucosidase (glucocerebrosidase) enzyme. It is inherited in an autosomal recessive fashion and both men and women are affected equally. We report here two families wherein the mutation analysis for the disease was performed as the clinical features of the child... view more»

DOI: 10.4172/2327-5790.1000132

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