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

• Autori principali: Jayesh Sheth (Autore), Dhairya Pancholi (Autore), Mehul Mistri (Autore), Payal Nath (Autore), Chitra Ankleshwaria (Autore), Riddhi Bhavsar (Autore), Ratna Puri (Autore), Shubha Phadke (Autore), Frenny Sheth (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2018-10-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...