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https://hdl.handle.net/2440/7753
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Type: | Journal article |
Title: | Mucopolysaccharidosis IIIA (Sanfilippo syndrome) in a New Zealand Huntaway dog with ataxia |
Author: | Jolly, R. Allan, F. Collett, M. Rozaklis, T. Muller, V. Hopwood, J. |
Citation: | New Zealand Veterinary Journal, 2000; 48(5):144-148 |
Publisher: | New Zealand Veterinary Assoc Inc |
Issue Date: | 2000 |
ISSN: | 0048-0169 1176-0710 |
Statement of Responsibility: | Jolly, R D ; Allan, F J ; Collett, M G ; Rozaklis, T ; Muller, V J ; Hopwood, J J |
Abstract: | <h4>Aim</h4>To investigate the nature of a progressive ataxia in a New Zealand Huntaway dog.<h4>Methods</h4>The affected dog was examined clinically before being humanely killed and necropsied. Selected tissues were submitted to light and electron microscopy and to biochemical analyses.<h4>Results</h4>The histological lesions were interpreted as indicative of one of the forms of mucopolysaccharidosis type-III (MPS-III), a lysosomal storage disease. Biochemically there was a deficiency of heparan sulphamidase. All the heparan sulphate chains had non-reducing-end glucosamine-N-sulphate residues.<h4>Conclusion</h4>The disease is MPS-IIIA (Sanfilippo syndrome). An autosomal recessive mode of inheritance can be provisionally assumed from the nature of this disease in other species. |
Keywords: | Mucopolysaccharidosis IIIA, Sanfilippo syndrome, animal model, heparan sulphamidase, heparan sulphate |
DOI: | 10.1080/00480169.2000.36181 |
Published version: | http://dx.doi.org/10.1080/00480169.2000.36181 |
Appears in Collections: | Aurora harvest 4 Paediatrics publications |
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