Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference10 articles.
1. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia;Baumgartner;Orphanet J Rare Dis,2014
2. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants;Martinez;Mol Genet Metab,2005
3. The assessment of levator trauma: a comparison between palpation and 4D pelvic floor ultrasound;Dietz;Neurourol Urodyn,2006
4. Assessment of lung recruitment by electrical impedance tomography and oxygenation in ARDS patients;Yun;Medicine (Baltimore,2016
5. Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria;Kong;Genet Mol Res,2014
Cited by 5 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. Uncommonly Missed Diagnosis of Methylmalonic Acidemia (MMA) in Adults and Usefulness of Testing for MMA in Cases of Seizures/Neuropathy/Weakness/Ataxia;Cureus;2023-10-24
2. Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis;Cell Reports Medicine;2022-07
3. Organic Acidemias;Nutrition Management of Inherited Metabolic Diseases;2022
4. Thoracic electrical impedance tomography in Chinese hospitals: a review of clinical research and daily applications;Physiological Measurement;2020-04-01
5. Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene;BMC Medical Genetics;2020-02-03
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