Phenotypic and molecular features of Thai patients with primary carnitine deficiency-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Phenotypic and molecular features of Thai patients with primary carnitine deficiency

Published:2023-01 Issue:1 Volume:65 Page:
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatrics International

Author:

Liammongkolkul Somporn¹,Boonyawat Boonchai²,Vijarnsorn Chodchanok³,Tim‐Aroon Thipwimol⁴,Wasant Pornswan¹,Vatanavicharn Nithiwat¹^ORCID

Affiliation:

1. Division of Medical Genetics, Department of Pediatrics Siriraj Hospital, Mahidol University Bangkok Thailand

2. Division of Medical Genetics, Department of Pediatrics Phramongkutklao Hospital and College of Medicine Bangkok Thailand

3. Division of Cardiology, Department of Pediatrics Siriraj Hospital, Mahidol University Bangkok Thailand

4. Division of Medical Genetics, Department of Pediatrics Faculty of Medicine Ramathbodi Hospital, Mahidol University Bangkok Thailand

Funder

Siriraj Foundation

Publisher

Wiley

Subject

Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ped.15404

Reference31 articles.

1. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

2. Primary Carnitine Deficiency Due to a Failure of Carnitine Transport in Kidney, Muscle, and Fibroblasts

3. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

4. Disorders of carnitine transport and the carnitine cycle

5. ESI–MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders

Cited by 1 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. Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis;Orphanet Journal of Rare Diseases;2024-07-03

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