{"title":"多重硫酸酯酶缺乏症中SUMF1分子缺陷的自然发病史和特征:1例报告","authors":"Shokoufeh Khanzadeh, Meisam Babaei, Parvin Imanpour, Shahram Sadeghvand","doi":"10.22038/IJP.2021.57775.4532","DOIUrl":null,"url":null,"abstract":"Multiple sulfatase deficiency (MSD) is a very rare lysosomal storage disease(LSD) caused by mutations in the SUMF1 gene. So far, about 143 patients with MSD have been reported in previous studies, although this figure is likely an underestimation due to under-reporting and under-recognition. This report showed the genetic and clinical aspects of a patient with MSD compared with previously reported patients.","PeriodicalId":51591,"journal":{"name":"International Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2021-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Natural disease history and characterization of SUMF1 molecular defects in multiple sulfatase deficiency: a case report\",\"authors\":\"Shokoufeh Khanzadeh, Meisam Babaei, Parvin Imanpour, Shahram Sadeghvand\",\"doi\":\"10.22038/IJP.2021.57775.4532\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Multiple sulfatase deficiency (MSD) is a very rare lysosomal storage disease(LSD) caused by mutations in the SUMF1 gene. So far, about 143 patients with MSD have been reported in previous studies, although this figure is likely an underestimation due to under-reporting and under-recognition. This report showed the genetic and clinical aspects of a patient with MSD compared with previously reported patients.\",\"PeriodicalId\":51591,\"journal\":{\"name\":\"International Journal of Pediatrics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2021-10-05\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Pediatrics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.22038/IJP.2021.57775.4532\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Pediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.22038/IJP.2021.57775.4532","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
Natural disease history and characterization of SUMF1 molecular defects in multiple sulfatase deficiency: a case report
Multiple sulfatase deficiency (MSD) is a very rare lysosomal storage disease(LSD) caused by mutations in the SUMF1 gene. So far, about 143 patients with MSD have been reported in previous studies, although this figure is likely an underestimation due to under-reporting and under-recognition. This report showed the genetic and clinical aspects of a patient with MSD compared with previously reported patients.
期刊介绍：
International Journal of Pediatrics is a peer-reviewed, open access journal that publishes original researcharticles, review articles, and clinical studies in all areas of pediatric research. The journal accepts submissions presented as an original article, short communication, case report, review article, systematic review, or letter to the editor.
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