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

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 glycans. SLC...

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Detalles Bibliográficos
Autores principales: Westenfield, Kristen, Sarafoglou, Kyriakie, Speltz, Laura C., Pierpont, Elizabeth I., Steyermark, Joan, Nascene, David, Bower, Matthew, Pierpont, Mary Ella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003163/
https://www.ncbi.nlm.nih.gov/pubmed/29907092
http://dx.doi.org/10.1186/s12881-018-0617-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003163/
https://www.ncbi.nlm.nih.gov/pubmed/29907092
http://dx.doi.org/10.1186/s12881-018-0617-6

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