Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates

Published:2005 Issue:4 Volume:25 Page:413-413
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Wolf Barry,Jensen Kevin P.,Barshop Bruce,Blitzer Miriam,Carlson Martha,Goudie David R.,Gokcay Gulden Huner,Demirkol Mubeccel,Baykal Tolunay,Demir F.,Quary Sharon,Shih Ling Yu,Pedro Helio F.,Chen Tsui-hua H.,Slonim Alfred E.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 31 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. Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patient;Molecular Biology Reports;2024-08-09

2. Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patient;2024-06-06

3. Bacuri (Platonia insignis Mart.): Nutritional values, volatile compounds, rheological properties, health benefits, and potential products;Food Chemistry;2024-03

4. Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin;The Journal of Gene Medicine;2023-09-26

5. Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking;International Journal of Molecular Sciences;2023-06-16

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