Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature
Author:
Funder
APCDG
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-016-0012-4.pdf
Reference73 articles.
1. AlSubhi S, AlHashem A, AlAzami A et al (2015) Further delineation of the ALG9-CDG phenotype. JIMD Rep 27:107–112
2. Arnoux JB, Boddaert N, Valayannopoulos V et al (2008) Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia. Mol Genet Metab 93:444–449
3. Aronica E, van Kempen AAMW, van der Heide M et al (2005) Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. Acta Neuropathol 109:433–442
4. Babovic-Vuksanovic D, Patterson MC, Schwenk WF et al (1999) Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. J Pediatr 135:775–781
5. Barone R, Sturiale L, Fiumara A, Uziel G, Garozzo D, Jaeken J (2007) Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype). J Inherit Metab Dis 30:107
Cited by 88 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. Wilson Disease: Diagnostic Challenges and Differential Diagnoses;Clinical & Translational Metabolism;2024-07-26
2. Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation;Molecular Genetics and Metabolism Reports;2024-06
3. Genetic aetiologies of acute liver failure;Journal of Inherited Metabolic Disease;2024-03-18
4. Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS);Orphanet Journal of Rare Diseases;2024-03-04
5. Developmental and Inherited Liver Disease;MacSween's Pathology of the Liver;2024
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