Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency

Author:

Ye J.,Wang T.,Han L. S.,Qiu W. J.,Zhang H. W.,Zhang Y. F.,Gao X. L.,Wang Y.,Gu X. F.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference22 articles.

1. Chen YT (2001) Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds); Childs B, Kinzler KW, Vogelstein B (assoc. eds). The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 1521–1551

2. Cole H, Reynolds TR, Buck GB et al (1994) Human serum biotinidase: cDNA cloning, sequence and characterization. J Biol Chem 269:6566–6570

3. Gu XF, Wang ZG, Ye J et al (2008) Neonatal screening in China: phenylketonuria, congenital hypothyroidism and expanded screening. Ann Acad Med Singap 37(Suppl 3):107–110

4. Han LS, Ye J, Qiu WJ et al (2007) Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report. J Inherit Metab Dis 30:507–514

5. Heard GS, McVoy JRS, Wolf B (1984) A screening method for biotinidase deficiency in newborns. Glin Chem 30:125–127

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