Associated Papers
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Wang T et al.
Frontiers in Genetics, 2019
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
Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.
Cho SY et al.
Clinical Genetics, 2012
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
Dantas MF et al.
Human Mutation, 2005
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