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dc.contributor.authorKarageorgos, L.en
dc.contributor.authorHill, B.en
dc.contributor.authorBawden, M.en
dc.contributor.authorHopwood, J.en
dc.identifier.citationJournal of Inherited Metabolic Disease, 2007; 30(3):358-364en
dc.descriptionThe original publication is available at www.springerlink.comen
dc.description.abstractMucopolysaccharidosis IIIB, an autosomal recessive lysosomal storage disorder of heparan sulfate caused by mutations in the α-N-acetylglucosaminidase (NAGLU) gene, was recently discovered in cattle. Clinical signs include progressive ataxia, stumbling gait, swaying and difficulty in balance and walking. These clinical signs are usually first observed at approximately 2 years of age and then develop progressively over the lifespan of the animals. Affected bulls were found to be homozygous for the missense mutation E452K (c.1354G > A). The availability of mutational analysis permits screening for the NAGLU mutation to eradicate this mutation from the cattle breeding population.en
dc.description.statementofresponsibilityL. Karageorgos, B. Hill, M. J. Bawden and J. J. Hopwooden
dc.publisherKluwer Academic Publen
dc.subjectBrain; Thalamic Nuclei; Neurons; Skin; Animals; Cattle; Mucopolysaccharidosis III; Cattle Diseases; Acetylglucosaminidase; DNA; Mutation, Missense; Genome; Reference Valuesen
dc.titleBovine mucopolysaccharidosis type IIIBen
dc.typeJournal articleen
pubs.library.collectionPaediatrics publicationsen
Appears in Collections:Paediatrics publications

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