ANNALS EXPRESS: Validation of an automated UPLC IgG N-glycan analytical method applicable to Classical Galactosaemia.
- Hugh Owen Colhoun,
- Eileen P Treacy,
- Marguerite M MacMahon,
- Pauline M Rudd,
- Maria Fitzgibbon,
- Roisin O'Flaherty,
- Karolina Maria Stepien
Ann Clin Biochem 2018 Jan 1:4563218762957. Epub 2018 Jan 1.
Salford Royal NHS Foundation Trust.
Background: Classical galactosaemia (OMIM 230400) is a rare disorder of carbohydrate metabolism caused by deficiency of the galactose-1-phosphate uridyltransferase enzyme. The pathophysiology of the long-term complications, mainly cognitive, neurological and female fertility problems, remains poorly understood. Current clinical methods of biochemical monitoring lack precision and individualisation with an identified need for improved biomarkers for this condition. Read More