Search Results - "Brown, A.Y."

SMITH-LEMLI-OPITZ syndrome, caused by deficiency in the last step of cholesterol biosynthesis: The bristol UKGTN DHCR7 mutation service by Sawyer, H, Gable, M, Honeychurch, J, Burton-Jones, S, Brown, A.Y, Williams, M

Get full text

IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia by Coss, K.P., Byrne, J.C., Coman, D.J., Adamczyk, B., Abrahams, J.L., Saldova, R., Brown, A.Y., Walsh, O., Hendroff, U., Carolan, C., Rudd, P.M., Treacy, E.P.

“…N-glycan processing and assembly defects have been demonstrated in untreated and partially treated patients with Classical Galactosaemia. These defects may…”
Get full text