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PreviewIssue DateTitleAuthor(s)
1996Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrowFairbairn, L.; Lashford, L.; Spooncer, E.; McDermott, R.; Lebens, G.; Arrand, J.; Arrand, J.; Bellantuono, I.; Holt, R.; Hatton, C.; Cooper, A.; Besley, G.; Wraith, J.; Anson, D.; Hopwood, J.; Dexter, T.
1996Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patientsLitjens, T.; Brooks, D.; Peters, C.; Gibson, G.; Hopwood, J.
1996Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndromeIsbrandt, D.; Hopwood, J.; von Figura, K.; Peters, C.
1995Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase proteinBrooks, D.; Robertson, D.; Bindloss, C.; Litjens, T.; Anson, D.; Peters, C.; Morris, C.; Hopwood, J.
1996Feline mucopolysaccharidosis type VI - characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the diseaseYogalingam, G.; Litjens, T.; Bielicki, J.; Crawley, A.; Muller, V.; Anson, D.; Hopwood, J.
1999Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypesWeber, B.; Guo, X.H.; Kleijer, W.; van de Kamp, J.; Poorthuis, B.; Hopwood, J.
1998Molecular genetics of mucopolysaccharidosis type I - mutation analysis among the patients of the former Soviet UnionVoskoboeva, E.; Krasnopolskaya, X.; Mirenburg, T.; Weber, B.; Hopwood, J.

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