Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion
Author:
Funder
Sanofi Genzyme
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/article/10.1007/s00431-019-03330-x/fulltext.html
Reference57 articles.
1. Arn P, Wraith J, Underhill L et al (2009) Characterization of surgical procedures in patients with mucopolysaccharidosis type I, findings from the MPS I Registry. J Pediatr 154(6):859–864. https://doi.org/10.1016/j.jpeds.2008.12.024
2. Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, Kohlschütter A, Kampmann C, Beck M (2005) Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 28:1011–1017. https://doi.org/10.1007/s10545-005-0112-z
3. Beck JM, Arn P, Giugliani R et al (2014) The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med 16(10):759–765. https://doi.org/10.1038/gim.2014.25
4. Boelens JJ, van Hasselt PM (2016) Neurodevelopmental outcome after hematopoietic cell transplantation in inborn errors of metabolism: current considerations and future perspectives. Neuropediatrics 47(5):285–292. https://doi.org/10.1055/s-0036-1584602
5. Bruni S, Lavery C, Broomfield A (2016) The diagnostic journey of patients with mucopolysaccharidosis I: a real-world survey of patient and physician experiences. Mol Genet Metab Rep 8:67–73. https://doi.org/10.1016/j.ymgmr.2016.07.006
Cited by 22 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. Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?;Molecular Genetics and Metabolism;2024-03
2. Evaluation of tendon and ligament microstructure and mechanical properties in a canine model of mucopolysaccharidosis I;Journal of Orthopaedic Research;2024-02-18
3. Co-Analysis of Serum and Urine Differentially Expressed Proteins in Mucopolysaccharidosis Type I;Journal of Proteome Research;2024-01-02
4. Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome: a mimicker of Juvenile Idiopathic Arthritis- Zebra amongst Horses;Pediatric Oncall;2024
5. Capsular and retinaculum thickening in type II mucopolysaccharidosis: a novel MRI finding;Skeletal Radiology;2023-11-06
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