Molecular analysis of theGNPTABandGNPTGgenes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Molecular analysis of theGNPTABandGNPTGgenes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations

Published:2009-07 Issue:1 Volume:76 Page:76-84
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Encarnação M,Lacerda L,Costa R,Prata MJ,Coutinho MF,Ribeiro H,Lopes L,Pineda M,Ignatius J,Galvez H,Mustonen A,Vieira P,Lima MR,Alves S

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01185.x/fullpdf

Reference20 articles.

1. Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family;Umehara;J Neurol Sci,1997

2. Prevalence of lysosomal storage diseases in Portugal;Pinto;Eur J Hum Genet,2004

3. Bovine UDP-N-acetyl-glucosamine: lysosomal-enzyme N-acetyglucosamine-1-phosphotransferase, Purification and subunit structure;Bao;J Biol Chem,1996

Cited by 43 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. Hurler Phenotype with Vacuolated Lymphocytes and Elevated Lysosomal Hydrolases – Is it Mucolipidosis?;Neurology India;2021-09

2. Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene;Journal of Genetic Engineering and Biotechnology;2021-08-03

3. Evaluation of recurrent GNPTAB , GNPTG , and NAGPA variants associated with stuttering;Advanced Genetics;2021-05-20

4. Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh;npj Genomic Medicine;2021-02-16

5. A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients;Journal of Inborn Errors of Metabolism and Screening;2021

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