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Results 11-20 of 58 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2015Absence of α-galactosidase cross-correction in Fabry heterozygote cultured skin fibroblastsFuller, M.; Mellett, N.; Hein, L.; Brooks, D.; Meikle, P.
2013Developmental changes and fructose absorption in children: effect on malabsorption testing and dietary managementJones, H.; Butler, R.; Moore, D.; Brooks, D.
2012Mass spectrometric quantification of glycogen to assess primary substrate accumulation in the Pompe mouseFuller, M.; Duplock, S.; Turner, C.; Davey, P.; Brooks, D.; Hopwood, J.; Meikle, P.
2007N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samplesParkinson-Lawrence, E.; Muller, V.; Hopwood, J.; Brooks, D.
2005Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spotsHein, L.; Meikle, P.; Dean, C.; Bockmann, M.; Auclair, D.; Hopwood, J.; Brooks, D.
2007Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapyKarageorgos, L.; Brooks, D.; Harmatz, P.; Ketteridge, D.; Pollard, A.; Melville, E.; Parkinson-Lawrence, E.; Clements, P.; Hopwood, J.
2005An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrumBrooks, D.; Gibson, G.; Karageorgos, L.; Hein, L.; Robertson, E.; Hopwood, J.
2004Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patientsParkinson, E.; Muller, V.; Hopwood, J.; Brooks, D.
1999Autologous transplantation of retrovirally transduced bone marrow or neonatal blood cells into cats can lead to long-term engraftment in the absence of myeloablationSimonaro, C.; Haskins, M.; Abkowitz, J.; Brooks, D.; Hopwood, J.; Zhang, J.B.; Schuchman, E.
2002Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): A Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar networkBradford, T.; Litjens, T.; Parkinson, E.; Hopwood, J.; Brooks, D.