Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference19 articles.
1. Glucosylceramide lipidosis: Gaucher disease;Beutler,1995
2. Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene;Theophilus;Nucleic Acids Res,1989
3. Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients;Horowitz;Am J Hum Genet,1993
4. Oculomotor apraxia: the presenting sign of Gaucher's disease;Gross-Tsur;Pediatr Neurol,1989
5. Gaucher disease of the lung causing severe pulmonary hypertension with associated acute recurrent pericarditis;Roberts;Circulation,1967
Cited by 194 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. Cornea and Sclera;Ocular Pathology;2025
2. Gaucher disease type 3c: Expanding the clinical spectrum of an ultra‐rare disease;JIMD Reports;2024-08-15
3. Posterior Spinal Fusion for Severe Kyphosis in a Child with Gaucher Disease: A Case Report and Review of the Literature;Surgeries;2024-08-06
4. Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion;Egyptian Journal of Medical Human Genetics;2024-07-31
5. Cardiac Manifestations in Inherited Metabolic Diseases;Cardiology in Review;2024-07-09
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