Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency-Reference-Cited by-同舟云学术

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Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency

Published:2021-02 Issue:2 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Chen Yao¹,Lin Qingying¹,Zeng Yinglin¹,Qiu Xiaolong¹,Liu Guanghua²,Zhu Wenbin¹^ORCID

Affiliation:

1. Neonatal Screening Center Fujian Maternity and Child Health HospitalAffiliated Hospital of Fujian Medical University Fuzhou China

2. Department of Pediatrics Fujian Maternity and Child Health HospitalAffiliated Hospital of Fujian Medical University Fuzhou China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1583

Reference23 articles.

1. A method and server for predicting damaging missense mutations

2. Genetic Epidemiology of the Carnitine Transporter OCTN2 Gene in a Japanese Population and Phenotypic Characterization in Japanese Pedigrees with Primary Systemic Carnitine Deficiency

3. Carnitine Transporter OCTN2 Mutations in Systemic Primary Carnitine Deficiency: A Novel Arg169Gln Mutation and a Recurrent Arg282ter Mutation Associated with an Unconventional Splicing Abnormality

4. Cardiomyopathy and carnitine deficiency

5. LOVD v.2.0: the next generation in gene variant databases

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. Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis;Orphanet Journal of Rare Diseases;2024-07-03

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

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