Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

• Main Authors: Jayesh Sheth (Author), Dhairya Pancholi (Author), Mehul Mistri (Author), Payal Nath (Author), Chitra Ankleshwaria (Author), Riddhi Bhavsar (Author), Ratna Puri (Author), Shubha Phadke (Author), Frenny Sheth (Author)
• Format: Book
• Published: BMC, 2018-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells' lysosomes. A beta-Glucosidase (GBA) gene defect results in glucocerebrosidase enzyme deficiency. Though the disease is main...