{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T05:08:51Z","timestamp":1747199331417,"version":"3.40.5"},"reference-count":12,"publisher":"Akademiai Kiado Zrt.","issue":"3","content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["AVet"],"published-print":{"date-parts":[[2022,10,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n            <jats:p>The present case report describes the clinical signs of a 10-month-old, intact female, Domestic Shorthair cat presented with a history of chronic progressive difficulty to walk with the four limbs. The physical and neurological examinations revealed skeletal deformities, corneal opacity and a severe spastic non-ambulatory tetraparesis. Complete blood count and biochemistry profiles were unremarkable. Diffuse bone rarefaction, hyperostosis and an apparent fusion of the vertebral bodies were observed on spinal radiographs. A non-contrast computed tomography (CT) exam of the whole body of the patient was performed. Based on the medical history, clinical findings, laboratory analysis, spinal radiographs and CT findings, a lysosomal storage disorder was suspected. Genetic testing for mucopolysaccharidosis VI\u00a0and VII revealed a genetic mutation, ARSB variant L476P, confirming the diagnosis of mucopolysaccharidosis type VI.<\/jats:p>","DOI":"10.1556\/004.2022.00024","type":"journal-article","created":{"date-parts":[[2022,8,29]],"date-time":"2022-08-29T09:55:24Z","timestamp":1661766924000},"page":"201-206","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":0,"title":["Mucopolysaccharidosis VI in a European Shorthair cat: Neurological presentation, computed tomography findings and genetic investigation"],"prefix":"10.1556","volume":"70","author":[{"given":"Beatrice","family":"Bravaccini","sequence":"first","affiliation":[{"name":"Neurology and Neurosurgery Division, San Marco Veterinary Clinic, Viale dell\u2019Industria 3, 35030 Veggiano (PD), Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Buffagni","sequence":"additional","affiliation":[{"name":"Neurology and Neurosurgery Division, San Marco Veterinary Clinic, Viale dell\u2019Industria 3, 35030 Veggiano (PD), Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Negro","sequence":"additional","affiliation":[{"name":"Diagnostic and Interventional Radiology Division, San Marco Veterinary Clinic, Veggiano (PD), Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Bertolini","sequence":"additional","affiliation":[{"name":"Diagnostic and Interventional Radiology Division, San Marco Veterinary Clinic, Veggiano (PD), Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelina","family":"Burbaite","sequence":"additional","affiliation":[{"name":"Dr. L. Kriau\u010deli\u016bnas Small Animal Clinic, Lithuanian University of Health Sciences, Kaunas, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7213-1005","authenticated-orcid":true,"given":"Marika","family":"Menchetti","sequence":"additional","affiliation":[{"name":"Neurology and Neurosurgery Division, San Marco Veterinary Clinic, Viale dell\u2019Industria 3, 35030 Veggiano (PD), Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"B1","series-title":"Calcif. Tissue Int.","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1007\/BF00310256","article-title":"Growth plate pathology in feline mucopolysaccharidosis VI","volume":"57","author":"Abreu, S.","year":"1995","unstructured":"Abreu, S.\n                  , \n                     Hayden, J.\n                  , \n                     Berthold, P.\n                  , \n                     Shapiro, I. 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