Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations
Author:
Publisher
Frontiers Media SA
Subject
Genetics(clinical),Genetics,Molecular Medicine
Reference37 articles.
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1. Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China;Human Genomics;2024-07-29
2. Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia;Frontiers in Genetics;2024-07-15
3. Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022;Frontiers in Genetics;2024-05-28
4. Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations;BMC Pediatrics;2024-02-14
5. 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
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