Associated Papers
Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD).
Qian G et al.
Molecular Genetics and Metabolism Reports, 2026
Newborn screening for fatty acid oxidation disorders in a southern Chinese population.
Lin Y et al.
Heliyon, 2024
DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy.
Ge L et al.
Open Medicine (warsaw, Poland), 2024
39588385 (PubMed )
Supplement: med-2024-0916-sm2.xlsx › Additional_File_2
Clinical and Gene Analysis of Fatty Acid Oxidation Disorders Found in Neonatal Tandem Mass Spectrometry Screening.
Wang X et al.
Pharmacogenomics and Personalized Medicine, 2023
Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.
Tan J et al.
Frontiers in Genetics, 2021
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