Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake

BACKGROUND: Classical galactosemia (CG) (OMIM #230400) is a rare disorder of carbohydrate metabolism, due to deficiency of galactose‐1‐phosphate uridyltransferase (EC 2.7.7.12). The pathophysiology of the long‐term complications, mainly cognitive, neurological, and female infertility remains poorly...

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Detalles Bibliográficos
Autores principales: Treacy, Eileen P., Vencken, Sebastian, Bosch, Annet M., Gautschi, Matthias, Rubio‐Gozalbo, Estela, Dawson, Charlotte, Nerney, Darragh, Colhoun, Hugh Owen, Shakerdi, Loai, Pastores, Gregory M., O'Flaherty, Roisin, Saldova, Radka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411110/
https://www.ncbi.nlm.nih.gov/pubmed/34485021
http://dx.doi.org/10.1002/jmd2.12237

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