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

• Main Authors: Kristen Westenfield (Author), Kyriakie Sarafoglou (Author), Laura C. Speltz (Author), Elizabeth I. Pierpont (Author), Joan Steyermark (Author), David Nascene (Author), Matthew Bower (Author), Mary Ella Pierpont (Author)
• Format: Book
• Published: BMC, 2018-06-01T00:00:00Z.
• Subjects: article
• Online Access: 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...