J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
{"title":"粘多糖和低聚糖","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/MED/9780190626655.003.0005","DOIUrl":null,"url":null,"abstract":"This chapter discusses mucopolysaccharidoses and oligosaccharidoses and explores dysostosis multiplex, mucopolysaccharidosis IV, mucolipidosis II, and mucolipidosis III. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"2 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Mucopolysaccharidoses and Oligosaccharidoses\",\"authors\":\"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger\",\"doi\":\"10.1093/MED/9780190626655.003.0005\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"This chapter discusses mucopolysaccharidoses and oligosaccharidoses and explores dysostosis multiplex, mucopolysaccharidosis IV, mucolipidosis II, and mucolipidosis III. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.\",\"PeriodicalId\":415380,\"journal\":{\"name\":\"Bone Dysplasias\",\"volume\":\"2 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Bone Dysplasias\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1093/MED/9780190626655.003.0005\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Bone Dysplasias","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/MED/9780190626655.003.0005","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
This chapter discusses mucopolysaccharidoses and oligosaccharidoses and explores dysostosis multiplex, mucopolysaccharidosis IV, mucolipidosis II, and mucolipidosis III. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.