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Type: Journal article
Title: Bovine mucopolysaccharidosis type IIIB
Author: Karageorgos, L.
Hill, B.
Bawden, M.
Hopwood, J.
Citation: Journal of Inherited Metabolic Disease, 2007; 30(3):358-364
Publisher: Kluwer Academic Publ
Issue Date: 2007
ISSN: 0141-8955
Statement of
L. Karageorgos, B. Hill, M. J. Bawden and J. J. Hopwood
Abstract: Mucopolysaccharidosis 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.
Keywords: Brain; Thalamic Nuclei; Neurons; Skin; Animals; Cattle; Mucopolysaccharidosis III; Cattle Diseases; Acetylglucosaminidase; DNA; Mutation, Missense; Genome; Reference Values
Description: The original publication is available at
RMID: 0020070450
DOI: 10.1007/s10545-007-0539-5
Appears in Collections:Paediatrics publications

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