Bovine mucopolysaccharidosis type IIIB

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dc.contributor.authorKarageorgos, L.
dc.contributor.authorHill, B.
dc.contributor.authorBawden, M.
dc.contributor.authorHopwood, J.
dc.date.issued2007
dc.descriptionThe original publication is available at www.springerlink.com
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.
dc.description.statementofresponsibilityL. Karageorgos, B. Hill, M. J. Bawden and J. J. Hopwood
dc.identifier.citationJournal of Inherited Metabolic Disease, 2007; 30(3):358-364
dc.identifier.doi10.1007/s10545-007-0539-5
dc.identifier.issn0141-8955
dc.identifier.issn1573-2665
dc.identifier.urihttp://hdl.handle.net/2440/43336
dc.language.isoen
dc.publisherKluwer Academic Publ
dc.source.urihttps://doi.org/10.1007/s10545-007-0539-5
dc.subjectBrain
dc.subjectThalamic Nuclei
dc.subjectNeurons
dc.subjectSkin
dc.subjectAnimals
dc.subjectCattle
dc.subjectMucopolysaccharidosis III
dc.subjectCattle Diseases
dc.subjectAcetylglucosaminidase
dc.subjectDNA
dc.subjectMutation, Missense
dc.subjectGenome
dc.subjectReference Values
dc.titleBovine mucopolysaccharidosis type IIIB
dc.typeJournal article
pubs.publication-statusPublished

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