Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference28 articles.
1. Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients
2. Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain
3. A suggested nomenclature for designating mutations
4. Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations
5. An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy
Cited by 54 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. Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management;European Journal of Paediatric Neurology;2024-03
2. A systematic review on the birth prevalence of metachromatic leukodystrophy;Orphanet Journal of Rare Diseases;2024-02-21
3. Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic leukodystrophy;Molecular Biology Reports;2023-12-28
4. In-silico profiling of deleterious non-synonymous single nucleotide polymorphisms of ARSA (arylsulphatase A) for enhanced diagnosis of metachromatic leukodystrophy;Human Gene;2022-12
5. Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy;Frontiers in Neurology;2022-10-17
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