Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical)
Reference29 articles.
Cited by 86 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. Reverse cascade testing from newborn screening: the opportunity to improve family healthcare outcomes;Clinical Chemistry and Laboratory Medicine (CCLM);2023-07-19
2. A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child;Orphanet Journal of Rare Diseases;2023-06-02
3. 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
4. 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
5. Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect;BMJ Case Reports;2022-12
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