Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus

Published:2022-02 Issue:2 Volume:135 Page:154-162
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Kishnani Priya S.,Al-Hertani Walla,Balwani Manisha,Göker-Alpan Özlem,Lau Heather A.,Wasserstein Melissa,Weinreb Neal J.,Grabowski Gregory

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference79 articles.

1. Recent advances in the diagnosis and management of Gaucher disease;Gary;Expert. Rev. Endocrinol. Metab.,2018

2. Gaucher disease and other storage disorders;Grabowski;Hematology Am. Soc. Hematol. Educ. Program,2012

3. Gaucher disease: single gene molecular characterization of one-hundred indian patients reveals novel variants and the most prevalent mutation;Sheth;BMC Med Genet.,2019

4. Glycosphingolipids and lysosomal storage disorders as illustrated by Gaucher disease;Aerts;Curr. Opin. Chem. Biol.,2019

5. A review of Gaucher disease pathophysiology, clinical presentation and treatments;Stirnemann;Int. J. Mol. Sci.,2017

Cited by 15 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. The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment;Diagnostics;2024-06-19

2. Neuronopathic Gaucher disease: Rare in the West, common in the East;Journal of Inherited Metabolic Disease;2024-05-20

3. A Real-World Investigation of MRI Changes in Bone in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: The EIROS Study;Journal of Clinical Medicine;2024-05-16

4. Phenotypic consequences of GBA1 pathological variant R463C (p.R502C);American Journal of Medical Genetics Part A;2024-04-22

5. What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview;Advances in Rheumatology;2024-03-22

同舟云学术

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