Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/62861
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dc.contributor.authorMcGill, J.en
dc.contributor.authorInwood, A.en
dc.contributor.authorComan, D.en
dc.contributor.authorLipke, M.en
dc.contributor.authorde Lore, D.en
dc.contributor.authorSwiedler, S.en
dc.contributor.authorHopwood, J.en
dc.date.issued2010en
dc.identifier.citationClinical Genetics, 2010; 77(5):492-498en
dc.identifier.issn0009-9163en
dc.identifier.issn1399-0004en
dc.identifier.urihttp://hdl.handle.net/2440/62861-
dc.description.abstractMucopolysaccharidosis type VI (MPS VI) is a progressive, multisystem disorder caused by a deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulphatase (ASB). Enzyme replacement therapy (ERT) has been shown to clinically benefit affected individuals greater than 6 years of age. This case control study of affected siblings assessed the safety, efficacy and benefits of ERT in children less than 5 years of age. Siblings, aged 8 weeks and 3.6 years, were treated weekly with 1 mg/kg recombinant human N-acetylgalactosamine-4-sulphatase (rhASB) with an end-point of 3.6 years. Clinical and biochemical parameters were monitored to assess the benefits of ERT. The treatment was well tolerated by both siblings. In the younger sibling, ERT was associated with the absence of the development of scoliosis and preserved joint movement, cardiac valves and facial morphology. The older sibling had a marked improvement in joint mobility and cardiac valve pathology and scoliosis slowed or stabilized. Corneal clouding and progressive skeletal changes were observed despite treatment. This study demonstrated a clear benefit of early initiation of ERT to slow or prevent the development of significant pathological changes of MPS VI. These results indicate that the earlier ERT is started, the greater the response.en
dc.description.statementofresponsibilityJJ McGill, AC Inwood, DJ Coman, ML Lipke, D de Lore, SJ Swiedler and JJ Hopwooden
dc.language.isoenen
dc.publisherBlackwell Munksgaarden
dc.rights© 2009 John Wiley & Sons A/Sen
dc.subjectdose; early intervention; enzyme replacement therapy; mucopolysaccharidosis; neonatal perioden
dc.titleEnzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age - a sibling control studyen
dc.typeJournal articleen
dc.identifier.doi10.1111/j.1399-0004.2009.01324.xen
pubs.publication-statusPublisheden
Appears in Collections:Paediatrics publications

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