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

IF 1.3 Q3 PEDIATRICS

International Journal of Pediatrics Pub Date : 2021-10-05 DOI:10.22038/IJP.2021.57775.4532

Shokoufeh Khanzadeh, Meisam Babaei, Parvin Imanpour, Shahram Sadeghvand

{"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}

引用次数: 0

摘要

多发性硫酸酯酶缺乏症（MSD）是一种非常罕见的由SUMF1基因突变引起的溶酶体贮积病（LSD）。到目前为止，在以前的研究中已经报告了大约143名默沙东患者，尽管由于报告不足和认识不足，这个数字可能被低估了。本报告显示了默沙东患者与先前报道的患者相比的遗传和临床方面。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

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.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

International Journal of Pediatrics PEDIATRICS-

CiteScore

3.90

自引率

0.00%

发文量

审稿时长

4 weeks

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.