Authors: Beesley, CE Meaney, CA Greenland, G Adams, V Vellodi, A Young, EP Winchester, BG

Citation: Ce. Beesley et al., Mutational analysis of 85 mucopolysaccharidosis type I families: frequencyof known mutations, identification of 17 novel mutations and in vitro expression of missense mutations, HUM GENET, 109(5), 2001, pp. 503-511

Authors: Young, EP Winchester, BG Logan, WP Wheeler, RB Lake, BD

Citation: Ep. Young et al., Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi, PRENAT DIAG, 20(4), 2000, pp. 337-339

Authors: Beesley, CE Young, EP Vellodi, A Winchester, BG

Citation: Ce. Beesley et al., Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations, J MED GENET, 37(9), 2000, pp. 704-707