Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study
Author:
Funder
Sanofi
Publisher
Elsevier BV
Reference34 articles.
1. An approach to interpreting spirometry;Barreiro;Am. Fam. Physician,2004
2. Acid sphingomyelinase deficiency: the clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges;Blümlein;Mol Genet Metab Rep,2022
3. Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): literature review and report of new cases;Cassiman;Mol Genet Metab,2016
4. Burden of illness in acid sphingomyelinase deficiency: a retrospective chart review of 100 patients;Cox;JIMD Rep,2018
5. Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results;Diaz;Orphanet J. Rare Dis.,2022
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