| http://purl.uniprot.org/citations/15111796 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15111796 | http://www.w3.org/2000/01/rdf-schema#comment | "The genetic mucopolysaccharidoses are a group of lysosomal storage diseases in which mucopolysaccharides (glycosaminoglycans) accumulate as the result of a malfunction or lack of a lysosomal degradation enzyme. There are currently seven known forms of mucopolysaccharidoses. Type I results from an enzymatic deficiency of alpha-L-iduronidase. There are three subtypes of mucopolysaccharidoses I that are commonly recognized: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome. Of the three subtypes, Hurler syndrome has the most severe clinical picture. Craniofacial anomalies and cognitive impairment are some of the more pronounced features of Hurler syndrome. Hurler syndrome has been described in cats, dogs, mice, and human beings and is inherited as an autosomal recessive trait. The biochemical nature of the disease is preserved across species lines. Clinically, the disease has similar effects in human beings and animals. It has been difficult to reverse the phenotype of the disease even with replacement of the defective alpha-L-iduronidase enzyme. The purpose of this study is to characterize the cranio-facial differences in the murine knock-out model of Hurler syndrome objectively. Twenty-three measurements were taken from computed tomographic scans in a coronal and sagittal plane on 24 black C57/B6 knock-out Hurler syndrome mice. The seven statistically significant measurements are width of the cervical canal, height of the foramen magnum, width between the external auditory canals, width of the skull base at the mandibular condyles, midocular distance, spread of the mandibular condyles, and width of the zygoma at the maxilla. This information now provides researchers with objective data from living Hurler syndrome-affected mice that will allow them to follow therapies directed at improving craniofacial outcomes for any therapy over time."xsd:string |
| http://purl.uniprot.org/citations/15111796 | http://purl.org/dc/terms/identifier | "doi:10.1097/00001665-200405000-00009"xsd:string |
| http://purl.uniprot.org/citations/15111796 | http://purl.uniprot.org/core/author | "Hartung S."xsd:string |
| http://purl.uniprot.org/citations/15111796 | http://purl.uniprot.org/core/author | "Pan D."xsd:string |
| http://purl.uniprot.org/citations/15111796 | http://purl.uniprot.org/core/author | "Lam C.H."xsd:string |
| http://purl.uniprot.org/citations/15111796 | http://purl.uniprot.org/core/author | "Low W."xsd:string |
| http://purl.uniprot.org/citations/15111796 | http://purl.uniprot.org/core/author | "Whitley C."xsd:string |
| http://purl.uniprot.org/citations/15111796 | http://purl.uniprot.org/core/author | "Graupman P."xsd:string |
| http://purl.uniprot.org/citations/15111796 | http://purl.uniprot.org/core/author | "Konair B."xsd:string |
| http://purl.uniprot.org/citations/15111796 | http://purl.uniprot.org/core/author | "McIvor S."xsd:string |
| http://purl.uniprot.org/citations/15111796 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15111796 | http://purl.uniprot.org/core/name | "J Craniofac Surg"xsd:string |
| http://purl.uniprot.org/citations/15111796 | http://purl.uniprot.org/core/pages | "392-398"xsd:string |
| http://purl.uniprot.org/citations/15111796 | http://purl.uniprot.org/core/title | "Craniofacial abnormalities in a murine knock-out model of mucopolysaccharidosis I H: a computed tomography and anatomic study."xsd:string |
| http://purl.uniprot.org/citations/15111796 | http://purl.uniprot.org/core/volume | "15"xsd:string |
| http://purl.uniprot.org/citations/15111796 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/15111796 |
| http://purl.uniprot.org/citations/15111796 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/15111796 |
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