Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency

Published:2006-05-30 Issue:4 Volume:29 Page:551-555
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Lee Ni-Chung,Chien Yin-Hsiu,Kobayashi Keiko,Saheki Takeyori,Chen Huey-Ling,Chiu Pao-Chin,Ni Yen-Hsuan,Chang Mei-Hwei,Hwu Wuh-Liang

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-006-0250-y

Reference15 articles.

1. Costa CC, de Almeida IT, Jakobs C, Poll-The BT, Duran M (1999) Dynamic changes of plasma acylcarnitine levels induced by fasting and sunflower oil challenge test in children. Pediatr Res 46: 440–444.

2. Hachisu M, Oda Y, Goto M, et al (2005) Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood. Eur J Pediatr 164: 109–110.

3. Imamura Y, Kobayashi K, Shibatou T, et al (2003) Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease. Hepatol Res 26: 68–72.

4. Inui Y, Kuwajima M, Kawata S, et al (1994) Impaired ketogenesis in patients with adult-type citrullinemia. Gastroenterology 107: 1154–1161.

5. Kobayashi K, Sinasac DS, Iijima M, et al (1999) The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nature Genetics 22: 159–163.

Cited by 19 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. Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition;Journal of Inherited Metabolic Disease;2024-03-19

2. Developmental and Inherited Liver Disease;MacSween's Pathology of the Liver;2024

3. Update on the diagnosis and management of neonatal intrahepatic cholestasis caused by citrin deficiency: Expert review on behalf of the Asian Pan‐Pacific Society for Pediatric Gastroenterology, Hepatology, and Nutrition;Journal of Pediatric Gastroenterology and Nutrition;2023-12-10

4. The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infants;Pediatric Research;2023-04-07

5. The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis;Journal of Human Genetics;2023-01-04

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