{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T15:46:25Z","timestamp":1792683985925,"version":"4.5.0"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2003,7,1]],"date-time":"2003-07-01T00:00:00Z","timestamp":1057017600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2003,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Mucopolysaccharidosis type VI (MPS VI), a lysosomal storage disease, is one of the more prevalent inherited diseases in cats and is commonly found in cats with Siamese ancestry. The prevalence of 2 known MPS VI mutations in cats was investigated in 101 clinically normal Siamese cats, in 2 cats with clinical signs of MPS VI, and in 202 cats from 4 research colonies. The mutation L476P, which causes a severe clinical phenotype, was present on both alleles in the known MPS VI cats from Italy and North America and was present in all research colonies that originated from North America. However, L476P was not detected in the Siamese population screened. In contrast, the mutation D520N, which causes a mild clinical phenotype, was identified in 23 of 202 (11.4%) alleles tested in Siamese cats from 3 continents, 2 of which were homozygous for D520N. Thus, the D520N mutation was widespread, and it is likely that cats inheriting both mutations (L476P\/D520N compound heterozygotes) would be in the general Siamese population, particularly in North America. Practitioners should note the high incidence of degenerative joint disease in these animals.<\/jats:p>","DOI":"10.1111\/j.1939-1676.2003.tb02470.x","type":"journal-article","created":{"date-parts":[[2010,3,11]],"date-time":"2010-03-11T00:28:15Z","timestamp":1268267295000},"page":"495-498","source":"Crossref","is-referenced-by-count":21,"title":["Prevalence of Mucopolysaccharidosis Type VI Mutations in Siamese Cats"],"prefix":"10.1093","volume":"17","author":[{"given":"AC","family":"Crawley","sequence":"first","affiliation":[{"name":"Women's and Children's Hospital Lysosomal Diseases Research Unit, Department of Chemical Pathology, , Adelaide,","place":["South Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FH","family":"Muntz","sequence":"additional","affiliation":[{"name":"University of Glasgow Veterinary School Department of Veterinary Pathology, , Glasgow, Scotland,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ME","family":"Haskins","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, University of Pennsylvania Department of Pathobiology and Clinical Studies, , Philadelphia, PA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"BR","family":"Jones","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, University College Dublin Department of Small Animal Clinical Studies, , Dublin,","place":["Ireland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JJ","family":"Hopwood","sequence":"additional","affiliation":[{"name":"Women's and Children's Hospital Lysosomal Diseases Research Unit, Department of Chemical Pathology, , Adelaide,","place":["South Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2003,7,1]]},"reference":[{"key":"2026020303514965900_b1","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"JAMA"},{"key":"2026020303514965900_b2","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1177\/030098589703400601","article-title":"Lysosomal storage diseases of animals: An essay in comparative pathology","volume":"34","author":"Jolly","year":"1997","journal-title":"Vet Pathol"},{"key":"2026020303514965900_b3","first-page":"3421","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Neufeld","year":"2001","edition":"8th ed."},{"key":"2026020303514965900_b4","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1126\/science.144321","article-title":"Mucopolysaccharidosis in a 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Dis"},{"key":"2026020303514965900_b8","first-page":"7","article-title":"Mucopolysaccharidosis VI in a kitten: A case report and discussion of feline Maroteaux-Lamy syndrome","volume":"21","author":"Beekman","year":"1993","journal-title":"Feline Pract"},{"key":"2026020303514965900_b9","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1203\/00006450-197911000-00001","article-title":"Mucopolysaccharide storage disease in 3 families of cats with arylsulfatase B deficiency: Leukocyte studies and carrier identification","volume":"13","author":"Haskins","year":"1979","journal-title":"Pediatr Res"},{"key":"2026020303514965900_b10","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1111\/j.1740-8261.1987.tb00059.x","article-title":"Radiographically visualized skeletal changes associated with mucopolysaccharidosis VI in cats","volume":"28","author":"Konde","year":"1987","journal-title":"Vet 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activity","volume":"273","author":"Yogalingam","year":"1998","journal-title":"J Biol Chem"},{"key":"2026020303514965900_b14","doi-asserted-by":"crossref","first-page":"384","DOI":"10.2460\/javma.1979.175.04.384","article-title":"Mucopolysacchari-dosis in a domestic short-haired cat\u2013A disease distinct from that seen in the Siamese cat","volume":"175","author":"Haskins","year":"1979","journal-title":"J Am Vet Med Assoc"},{"key":"2026020303514965900_b15","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1177\/030098589403100405","article-title":"Feline mu-copolysaccharidosis VII due to beta-glucuronidase deficiency","volume":"31","author":"Gitzelmann","year":"1994","journal-title":"Vet Pathol"},{"key":"2026020303514965900_b16","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1177\/030098589603300101","article-title":"Spontaneous muco-lipidosis in a cat: An animal model of human I-cell disease","volume":"33","author":"Bosshard","year":"1996","journal-title":"Vet 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