{"title":"哈特纳普病的临床表现。没有尿氨基酸或任何其他确定的代谢紊乱(一个新的实体)。","authors":"E R Da Gloria, J G Assunção, M A Costa","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Harthnup disease clinical picture without aminoaciduria or other identified metabolic disturb (New entity?). The authors present a patient with clinical picture superposed to the Hartnup disease's, a rare, autosomic and recessive metabolic disturbance, characterized by typical aminoaciduria consequent to tryptophan and other neutral aminoacids defective transport by jejunal mucous membrane and renal tubules, clinically expressed by photosensitive pellagra-like dermatitis, mental retardation and intermittent cerebellar ataxia. The laboratorial results did not confirm Hartnup aminoaciduria nor other identified metabolic change that justify his clinical manifestations.</p>","PeriodicalId":18373,"journal":{"name":"Medicina cutanea ibero-latino-americana","volume":"18 4","pages":"227-31"},"PeriodicalIF":0.0000,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Clinical picture of Hartnup disease. Without urine amino acids or any other identified metabolic disorder (a new entity)].\",\"authors\":\"E R Da Gloria, J G Assunção, M A Costa\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Harthnup disease clinical picture without aminoaciduria or other identified metabolic disturb (New entity?). The authors present a patient with clinical picture superposed to the Hartnup disease's, a rare, autosomic and recessive metabolic disturbance, characterized by typical aminoaciduria consequent to tryptophan and other neutral aminoacids defective transport by jejunal mucous membrane and renal tubules, clinically expressed by photosensitive pellagra-like dermatitis, mental retardation and intermittent cerebellar ataxia. The laboratorial results did not confirm Hartnup aminoaciduria nor other identified metabolic change that justify his clinical manifestations.</p>\",\"PeriodicalId\":18373,\"journal\":{\"name\":\"Medicina cutanea ibero-latino-americana\",\"volume\":\"18 4\",\"pages\":\"227-31\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1990-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medicina cutanea ibero-latino-americana\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicina cutanea ibero-latino-americana","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
[Clinical picture of Hartnup disease. Without urine amino acids or any other identified metabolic disorder (a new entity)].
Harthnup disease clinical picture without aminoaciduria or other identified metabolic disturb (New entity?). The authors present a patient with clinical picture superposed to the Hartnup disease's, a rare, autosomic and recessive metabolic disturbance, characterized by typical aminoaciduria consequent to tryptophan and other neutral aminoacids defective transport by jejunal mucous membrane and renal tubules, clinically expressed by photosensitive pellagra-like dermatitis, mental retardation and intermittent cerebellar ataxia. The laboratorial results did not confirm Hartnup aminoaciduria nor other identified metabolic change that justify his clinical manifestations.
期刊介绍:
La Revista Medicina Cutánea Ibero-Latino-Americana se adhiere a los “Requisitos de uniformidad para manuscritos presentados para publicación en revista biomédicas” elaborados por el Comité Internacional de Editores de Revista Médicas