Newborn Screening for Lysosomal Storage Disorders
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference43 articles.
1. Cumulative incidence rates of the mucopolysaccharidoses in Germany;Baehner;Journal of Inherited Metabolic Disease,2005
2. The natural history of MPS I: Global perspectives from the MPS I Registry;Beck;Genetics in Medicine,2014
3. Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening;Bezman;Annals of Neurology,2001
4. Mucopolysaccharidosis Type I;Clarke,2016
5. Antisense oligoneucleotide-mediated suppression of muscle glycogen synthase/synthesis as an approach for substrate reduction therapy of Pompe disease;Clayton;Molecular Therapeutics-Nucleic Acids,2014
Cited by 14 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. Retrospective analysis of prenatal ultrasound of children with Pompe disease;Taiwanese Journal of Obstetrics and Gynecology;2022-11
2. A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I;Molecular Genetics and Metabolism;2022-08
3. Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus;Molecular Genetics and Metabolism;2022-02
4. Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications;International Journal of Molecular Sciences;2021-09-17
5. Splenomegaly in Children and Adolescents;Frontiers in Pediatrics;2021-07-09
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