Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin

Published:2023-06 Issue:2 Volume:139 Page:107605
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Lasio M. Laura Duque,Leshinski Angela C.,Ducich Nicole H.,Flore Leigh Anne,Lehman April,Shur Natasha,Jayakar Parul B.,Hainline Bryan E.,Basinger Alice A.,Wilson William G.,Diaz George A.,Erbe Richard W.,Koeberl Dwight D.,Vockley Jerry,Bedoyan Jirair K.

Funder

Ultragenyx Pharmaceutical

National Institutes of Health

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference51 articles.

1. Pyruvate carboxylase deficiency;Wang,1993

2. Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis;Marin-Valencia;Mol. Genet. Metab.,2010

3. Pyruvate carboxylase deficiency;Wang,2009

4. Prolonged survival in pyruvate carboxylase deficiency: lack of correlation with enzyme activity in cultured fibroblasts;Stern;Clin. Biochem.,1995

5. The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival;Wang;Mol. Genet. Metab.,2008

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