{"title":"与先天性代谢缺陷有关的白内障:一种诊断辅助工具。","authors":"A Cantani, M Ferrara, G Bamonte","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Inborn errors of metabolism are a substantial field of medicine. Although genetic syndromes associated with cataracts are rare, they are important since early detection and effective treatment of visual handicaps is one of the most urgent duties of any practitioner and pediatrician. Cooperation among pediatricians, ophthalmologists, orthoptists and geneticists, as well as the institution of a high-risk registry for visual handicaps appears to be of paramount importance.</p>","PeriodicalId":77261,"journal":{"name":"Metabolic, pediatric, and systemic ophthalmology (New York, N.Y. : 1985)","volume":"14 1","pages":"8-11"},"PeriodicalIF":0.0000,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Cataracts associated with inborn errors of metabolism: a diagnostic aid.\",\"authors\":\"A Cantani, M Ferrara, G Bamonte\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Inborn errors of metabolism are a substantial field of medicine. Although genetic syndromes associated with cataracts are rare, they are important since early detection and effective treatment of visual handicaps is one of the most urgent duties of any practitioner and pediatrician. Cooperation among pediatricians, ophthalmologists, orthoptists and geneticists, as well as the institution of a high-risk registry for visual handicaps appears to be of paramount importance.</p>\",\"PeriodicalId\":77261,\"journal\":{\"name\":\"Metabolic, pediatric, and systemic ophthalmology (New York, N.Y. : 1985)\",\"volume\":\"14 1\",\"pages\":\"8-11\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1991-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Metabolic, pediatric, and systemic ophthalmology (New York, N.Y. : 1985)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Metabolic, pediatric, and systemic ophthalmology (New York, N.Y. : 1985)","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Cataracts associated with inborn errors of metabolism: a diagnostic aid.
Inborn errors of metabolism are a substantial field of medicine. Although genetic syndromes associated with cataracts are rare, they are important since early detection and effective treatment of visual handicaps is one of the most urgent duties of any practitioner and pediatrician. Cooperation among pediatricians, ophthalmologists, orthoptists and geneticists, as well as the institution of a high-risk registry for visual handicaps appears to be of paramount importance.
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