Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

• मुख्य लेखकों: Kristen Westenfield (लेखक), Kyriakie Sarafoglou (लेखक), Laura C. Speltz (लेखक), Elizabeth I. Pierpont (लेखक), Joan Steyermark (लेखक), David Nascene (लेखक), Matthew Bower (लेखक), Mary Ella Pierpont (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2018-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Congenital disorders of glycosylation are rare conditions caused by genetic defects in glycan synthesis, processing or transport. Most congenital disorders of glycosylation involve defects in the formation or transfer of the lipid-linked oligosaccharide precursor of N-linked glyc...