{"title":"[focusidosis]。","authors":"M. Akagi, K. Inui","doi":"10.32388/ri067q","DOIUrl":null,"url":null,"abstract":"Disseminated angiokeratomas can be seen in patients with an inherited deficiency of alpha-l-fucosidase as well as in patients with classic Fabry's disease. Patients with deficiency of this lysosomal enzyme, or fucosidosis, have spasticity, mental retardation, and retardation of growth in addition to angiokeratomas. We herein report three new cases of this rare syndrome.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"50 1","pages":"731-2"},"PeriodicalIF":0.0000,"publicationDate":"2020-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Fucosidosis].\",\"authors\":\"M. Akagi, K. Inui\",\"doi\":\"10.32388/ri067q\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Disseminated angiokeratomas can be seen in patients with an inherited deficiency of alpha-l-fucosidase as well as in patients with classic Fabry's disease. Patients with deficiency of this lysosomal enzyme, or fucosidosis, have spasticity, mental retardation, and retardation of growth in addition to angiokeratomas. We herein report three new cases of this rare syndrome.\",\"PeriodicalId\":79374,\"journal\":{\"name\":\"Ryoikibetsu shokogun shirizu\",\"volume\":\"50 1\",\"pages\":\"731-2\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-02-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Ryoikibetsu shokogun shirizu\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.32388/ri067q\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ryoikibetsu shokogun shirizu","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32388/ri067q","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Disseminated angiokeratomas can be seen in patients with an inherited deficiency of alpha-l-fucosidase as well as in patients with classic Fabry's disease. Patients with deficiency of this lysosomal enzyme, or fucosidosis, have spasticity, mental retardation, and retardation of growth in addition to angiokeratomas. We herein report three new cases of this rare syndrome.
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