F Carta, M Tondi, F Carboni, M Maione, C Mastropaolo
{"title":"粘脂病I型:三姐妹的眼部体征。","authors":"F Carta, M Tondi, F Carboni, M Maione, C Mastropaolo","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>In inborn errors of metabolism ocular signs can often represent an early symptom and permit a presumed diagnosis which must be confirmed by biochemical studies. Moreover the ocular signs indicate the evolution of the illness together with other general symptoms.</p>","PeriodicalId":79236,"journal":{"name":"Metabolic ophthalmology, pediatric and systemic","volume":"8 1","pages":"21-5"},"PeriodicalIF":0.0000,"publicationDate":"1984-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Mucolipidosis I: ocular signs in three sisters.\",\"authors\":\"F Carta, M Tondi, F Carboni, M Maione, C Mastropaolo\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>In inborn errors of metabolism ocular signs can often represent an early symptom and permit a presumed diagnosis which must be confirmed by biochemical studies. Moreover the ocular signs indicate the evolution of the illness together with other general symptoms.</p>\",\"PeriodicalId\":79236,\"journal\":{\"name\":\"Metabolic ophthalmology, pediatric and systemic\",\"volume\":\"8 1\",\"pages\":\"21-5\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1984-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Metabolic ophthalmology, pediatric and systemic\",\"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 ophthalmology, pediatric and systemic","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
In inborn errors of metabolism ocular signs can often represent an early symptom and permit a presumed diagnosis which must be confirmed by biochemical studies. Moreover the ocular signs indicate the evolution of the illness together with other general symptoms.
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