Phenotypic and molecular spectrum of guanidinoacetate N-Methyltransferase deficiency: An analytical study of a case series and a scoping review of 53 cases of guanidinoacetate N-Methyltransferase-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Phenotypic and molecular spectrum of guanidinoacetate N-Methyltransferase deficiency: An analytical study of a case series and a scoping review of 53 cases of guanidinoacetate N-Methyltransferase

Published:2022 Issue:0 Volume:0 Page:0
ISSN:2213-879X
Container-title:Journal of Microscopy and Ultrastructure
language:en
Short-container-title:J Microsc Ultrastruct

Author:

Alyazidi AnasS,Muthaffar OsamaY,Shawli MohammedK,Ahmed RenadA,Aljefri YaraFahad,Baaishrah LayanSaleh,Jambi AbdulazizT,Alotibi FahadA

Publisher

Medknow

Subject

Nephrology,Instrumentation,Pathology and Forensic Medicine,Electronic, Optical and Magnetic Materials

Reference47 articles.

1. Schulze A. Creatine deficiency syndromes. In: Handbook of Clinical Neurology. 1st ed., Vol. 113. Amsterdam: Elsevier B.V; 2013. p. 1837-43. Available from: http://dx.doi.org/10.1016/B978-0-444-59565-2.00053-8. [Last accessed on 2021 Dec 27].

2. Intellectual disability and brain creatine deficit: Phenotyping of the genetic mouse model for GAMT deficiency;Rossi;Genes (Basel),2021

3. Case series of creatine deficiency syndrome due to guanidinoacetate methyltransferase deficiency;Narayan;Ann Indian Acad Neurol,2020

4. Duplications in 19p13.3 are associated with male infertility;Singh;J Assist Reprod Genet,2019

5. A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene;Mercimek-Mahmutoglu;Gene,2016

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