Lysosomal diseases: diagnostic update
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-014-9710-y
Reference70 articles.
1. Alavi A, Nafissi S, Shamshiri H, Nejad MM, Elahi E (2013) Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C. Molec Genet Metab 110:139–144
2. Altarescu G, Brooks B, Margalioth E, Eldar Geva T, Levy-Lahad E, Renbaum P (2007) Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease. Reprod Biomed Online 15(1):83–88
3. Altarescu G, Beeri R, Eiges R et al (2012) Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis. Mol Biol Int 2012:797342
4. Auray-Blais C, Lavoie P, Zhang H et al (2012) An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper. Clin Chim Acta 413(7–8):771–778
5. Bauer P, Balding DJ, Klünemann HH et al (2013) Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. Hum Mol Genet 22(21):4349–4356
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. Neuronopathic lysosomal storage disorders;Neurogenetics for the Practitioner;2024
2. Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases;Lysosomal Storage Disorders;2022-07-21
3. Recent Progress in Drug Repurposing Using Protein Variants and Amino Acids in Disease Phenotypes/Disorders;Drug Repurposing - Molecular Aspects and Therapeutic Applications;2022-06-01
4. An overview on metabolic disorders and current therapy;The Role of Phytonutrients in Metabolic Disorders;2022
5. Diagnostic biochimique et moléculaire des maladies de surcharge lysosomale avec anomalies cytologiques;Revue Francophone des Laboratoires;2021-11
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