Inborn errors of metabolism
Author:
Publisher
Elsevier
Reference232 articles.
1. Cervical spine deformities in children with rhizomelic chondrodysplasia punctata;Abousamra;J Pediatr Orthop,2017
2. Neu–Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the l-serine biosynthesis pathway;Acuna-Hidalgo;Am J Hum Genet,2014
3. Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate;Ahmad;Am J Med Genet,1999
4. Diagnosing glucose transporter 1 deficiency at initial presentation facilitates early treatment;Akman;J Pediatr,2016
5. Targeted therapy for inherited GPI deficiency;Almeida;N Engl J Med,2007
Cited by 63 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. Respiratory Complications in the Inborn Errors of Metabolism;Current Respiratory Medicine Reviews;2025-02
2. Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review;Molecular Genetics and Metabolism Reports;2024-09
3. Best Practices for Development and Validation of Enzymatic Activity Assays to Support Drug Development for Inborn Errors of Metabolism and Biomarker Assessment;The AAPS Journal;2024-08-23
4. Seizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 Years;Neurocritical Care;2024-08-13
5. Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission;Frontiers in Genetics;2024-08-08
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