A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients-Reference-Cited by-同舟云学术

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A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients

Published:2002-08-21 Issue:3 Volume:20 Page:232-232
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Tang Nelson L.S.,Hwu W.L.,Chan Rachel T.,Law L.K.,Fung L.M.,Zhang W.M.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 40 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

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2. Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France;International Journal of Neonatal Screening;2023-02-01

3. Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China;Frontiers in Genetics;2022-12-08

4. Screening for newborn fatty acid oxidation disorders in Chongqing and the follow-up of confirmed children;Journal of Zhejiang University (Medical Sciences);2022-06-01

5. Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening;Orphanet Journal of Rare Diseases;2021-12

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