Hypocitrullinemia in expanded newborn screening by LC–MS/MS is not a reliable marker for ornithine transcarbamylase deficiency-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Hypocitrullinemia in expanded newborn screening by LC–MS/MS is not a reliable marker for ornithine transcarbamylase deficiency

Published:2009-07 Issue:5 Volume:49 Page:1292-1295
ISSN:0731-7085
Container-title:Journal of Pharmaceutical and Biomedical Analysis
language:en
Short-container-title:Journal of Pharmaceutical and Biomedical Analysis

Author:

Cavicchi C.,Malvagia S.,la Marca G.,Gasperini S.,Donati M.A.,Zammarchi E.,Guerrini R.,Morrone A.,Pasquini E.

Publisher

Elsevier BV

Subject

Clinical Biochemistry,Spectroscopy,Drug Discovery,Pharmaceutical Science,Analytical Chemistry

Reference24 articles.

1. The Metabolic and Molecular Bases of Inherited Disease;Brusilow,2001

2. N-acetylglutamate synthetase deficiency: Clinical and laboratory observations

3. N-Acetylglutamate synthetase deficiency: Favourable experience with carbamylglutamate

4. The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

5. Hypocitrullinemia in patients with MELAS: an insight into the “MELAS paradox”

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. A preliminary retrospective evaluation of screening and diagnosis of ornithine transcarbamylase deficiency in high-risk patients at a referral center in Vietnam;Heliyon;2024-08

2. Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice;Nutrients;2023-12-20

3. Newborn ornithine carbamyltransferase deficiency caused by new OTC gene mutations: a report of two cases and review of the literature on phenotype and genotype;Translational Pediatrics;2023-10

4. Secondary Findings of Newborn Screening;OBM Genetics;2023-08-31

5. Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency;Biomedicines;2023-08-08

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