Shunt surgery for early-onset severe hydrocephalus in methylmalonic acidemia: report on two cases and review of the literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/article/10.1007/s00381-018-3753-6/fulltext.html
Reference16 articles.
1. Harting I, Seitz A, Geb S, Zwickler T, Porto L, Lindner M, Kolker S, Horster F (2008) Looking beyond the basal ganglia: the spectrum of MRI changes in methylmalonic acidaemia. J Inherit Metab Dis 31:368–378
2. Baumgartner MR, Horster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grunert SC, Grunewald S, Honzik T, Merinero B, Perez-Cerda C, Scholl-Burgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet journal of rare diseases 9:130
3. Oberholzer VG, Levin B, Burgess EA, Young WF (1967) Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. Arch Dis Child 42:492–504
4. Rosenberg LE, Lilljeqvist AC, Hsia YE (1968) Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia. N Engl J Med 278:1319–1322
5. de Sousa C, Piesowicz AT, Brett EM, Leonard JV (1989) Focal changes in the globi pallidi associated with neurological dysfunction in methylmalonic acidaemia. Neuropediatrics 20:199–201
Cited by 3 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. Genetic etiologies associated with infantile hydrocephalus in a Chinese infantile cohort;World Journal of Pediatrics;2021-04-29
2. Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency;Neurology;2020-09-17
3. Hydrocephalus in cblC type methylmalonic acidemia;Metabolic Brain Disease;2018-12-19
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