Rare case of homozygous epimerase deficiency and heterozygous of duarte 2 variant-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Rare case of homozygous epimerase deficiency and heterozygous of duarte 2 variant

Published:2014-01-20 Issue:9-10 Volume:27 Page:
ISSN:2191-0251
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:
Short-container-title:

Author:

Koliofoti Eleana Georgia,Gkentzi Despoina,Varvarigou Anastasia,Trigka Maria,Schulpis Kleopatra

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2013-0431/pdf

Reference20 articles.

1. Deficiency of uridine diphosphate galactose epimerase in blood cells of an apparently healthy infant;Gitzelmann;Acta,1972

2. RE GT JE MA Generalised uridine diphosphate galactose epimerase deficiency;Walter;Arch Dis Child,1999

3. - deficiency galactosemia is not a binary condition;Openo;Am J Hum Genet,2006

4. Deficiency of uridine diphosphate galactose epimerase in blood cells of an apparently healthy infant;Gitzelmann;Acta,1972

5. phosphate uridyl transferase due to Duarte galactosemia combined variations Clinical and biochemical studies;Levy;J Pediatr,1979

Cited by 2 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 evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases;Journal of Pediatric Endocrinology and Metabolism;2017-01-01

2. Metabolic Liver Disease: When to Suspect and How to Diagnose?;The Indian Journal of Pediatrics;2016-04-29

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