Associated Papers
Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.
Lin Y et al.
Scientific Reports, 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
Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China.
Lin W et al.
Molecular Genetics and Metabolism Reports, 2024
Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.
Yang L et al.
Clinical Genetics, 2015
[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency].
Gong LF et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013
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