A monozygotic twin pair with highly discordant Gaucher phenotypes-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A monozygotic twin pair with highly discordant Gaucher phenotypes

Published:2011-01 Issue:1 Volume:46 Page:39-41
ISSN:1079-9796
Container-title:Blood Cells, Molecules, and Diseases
language:en
Short-container-title:Blood Cells, Molecules, and Diseases

Author:

Biegstraaten M.,van Schaik I.N.,Aerts J.M.F.G.,Langeveld M.,Mannens M.M.A.M.,Bour L.J.,Sidransky E.,Tayebi N.,Fitzgibbon E.,Hollak C.E.M.

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference9 articles.

1. Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations;Kim;Hum. Mutat.,1996

2. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease;Koprivica;Am. J. Hum. Genet.,2000

3. Twin pairs showing discordance of phenotype in adult Gaucher's disease;Lachmann;QJM : Mon. J. Assoc. Physicians,2004

4. DNA methylation analysis of multiple tissues from newborn twins reveals both genetic and intrauterine components to variation in the human neonatal epigenome;Ollikainen;Hum. Mol. Genet.,2010

5. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase;Reczek;Cell,2007

Cited by 59 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. Gaucher disease provides a unique window into Parkinson disease pathogenesis;Nature Reviews Neurology;2024-08-06

2. Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease;Human Molecular Genetics;2024-08-05

3. An increase in ER stress and unfolded protein response in iPSCs-derived neuronal cells from neuronopathic Gaucher disease patients;Scientific Reports;2024-04-22

4. A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment;Acta Neurologica Belgica;2024-02-28

5. Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study;Biomedicines;2023-10-22

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