The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynecology
Reference54 articles.
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3. Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China;Han;Pediatr Neonatol,2020
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Cited by 3 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. Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study;Orphanet Journal of Rare Diseases;2024-05-15
2. Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population;Clinica Chimica Acta;2024-01
3. Haplotype‐based noninvasive prenatal diagnosis of methylmalonic acidemia and the discovery of a recurrent pathogenic haplotype associated with c.609G>A;Prenatal Diagnosis;2023-11
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