Associated Papers
Experimental insights into MMACHC variants using a novel minigene system.
Dong Y et al.
Molecular Genetics and Metabolism, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S3
Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations.
Lv W et al.
Frontiers in Genetics, 2021
Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations.
Zhou W et al.
Frontiers in Genetics, 2018
[Analysis of clinical features and gene mutations in two Chinese pedigrees with late-onset methylmalonic acidemia, cblC type].
Cui D et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
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