A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency

Published:2020-07-22 Issue:6 Volume:43 Page:1288-1297
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Schlotawa Lars¹^ORCID,Preiskorn Joana¹,Ahrens‐Nicklas Rebecca²^ORCID,Schiller Stina¹,Adang Laura A.³^ORCID,Gärtner Jutta¹^ORCID,Friede Tim⁴^ORCID

Affiliation:

1. Department of Paediatrics and Adolescent Medicine University Medical Center Göttingen Göttingen Germany

2. Division of Clinical Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

3. Division of Child Neurology, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

4. Department of Medical Statistics University Medical Center Göttingen Göttingen Germany

Funder

Deutsche Forschungsgemeinschaft

Niedersächsisches Ministerium für Wissenschaft und Kultur

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12282

Reference32 articles.

1. The Multiple Sulfatase Deficiency Gene Encodes an Essential and Limiting Factor for the Activity of Sulfatases

2. Multiple Sulfatase Deficiency Is Caused by Mutations in the Gene Encoding the Human Cα-Formylglycine Generating Enzyme

3. Molecular Basis for Multiple Sulfatase Deficiency and Mechanism for Formylglycine Generation of the Human Formylglycine-Generating Enzyme

4. Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann–Pick C1 disease — Lysosomal storage disorders caused by defects of non-lysosomal proteins

5. Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency;Molecular Therapy;2024-08

2. Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity;Clinical Genetics;2024-06-11

3. Lysosomal storage diseases. Sphingolipidoses – leukodystrophy;Pediatrician (St. Petersburg);2024-05-07

4. Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency;2024-03-12

5. A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency;Molecular Genetics and Metabolism;2024-02

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3