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|Title:||Enzyme replacement therapy in a murine model of mucopolysaccharidosis type IIIA / by Briony Lee Gliddon.|
|Author:||Gliddon, Briony Lee|
|School/Discipline:||Dept. of Paediatrics|
|Abstract:||Mucopolysaccharideosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is an autosomal recessive lysosomal storage disease, with a prevalence in Australia of 1 in 114,000. MPS IIIA is caused by a deficiency of the lysosomal enzyme sulphamidase which is needed together with other exohydrolases and a N-acetyltransferase to break down the glycosaminoglycan heparan sulphate to sulphate and monosaccharides. Patients are characterised by severe central nervous systems degeneration together with mild somatic involvement; this disproportionate correlation is unique amongst the mucopolysaccharidoses. Features include severe behavioural disturbances, such as hyperactivity and aggressiveness, coarse hair and mild hepatosplenomegaly. Death is usually in the mid- to late-teenage years. Enzyme replacement therapy by intravenous administration of recombinant human NS (rhNS) has been proposed as a potential therapy for MPS IIIA. This thesis suggests that rhNS, entering the brain in the first few weeks of life, is able to retard the behaviour and learning difficulties in MPS IIIA mice.|
|Dissertation Note:||Thesis (Ph.D.)--University of Adelaide, Dept. of Paediatrics, 2003|
|Subject:||Mucopolysaccharidosis Gene therapy.|
Lysosomal storage diseases.
Mice as laboratory animals.
|Description:||Addenda page on inside back cover.|
Bibliography: leaves 153-176.
xiii, 176 leaves ; ill. (some col.) ; 30 cm
|Provenance:||This electronic version is made publicly available by the University of Adelaide in accordance with its open access policy for student theses. Copyright in this thesis remains with the author. This thesis may incorporate third party material which has been used by the author pursuant to Fair Dealing exception. If you are the author of this thesis and do not wish it to be made publicly available or If you are the owner of any included third party copyright material you wish to be removed from this electronic version, please complete the take down form located at: http://www.adelaide.edu.au/legals|
|Appears in Collections:||Research Theses|
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