Assessment of cellular cobalamin metabolism in Gaucher disease

• मुख्य लेखकों: Suelen Porto Basgalupp (लेखक), Marina Siebert (लेखक), Charles Ferreira (लेखक), Sidney Behringer (लेखक), Ute Spiekerkoetter (लेखक), Luciana Hannibal (लेखक), Ida Vanessa Doederlein Schwartz (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C. Clinically, GD manifests with heterogeneous multiorgan involvement mai...