Associated Papers
First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant.
Parvini F et al.
Orphanet Journal of Rare Diseases, 2025
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.
Tang C et al.
International Journal of Neonatal Screening, 2024
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
Chen T et al.
Jama Network Open, 2023
37656460 (PubMed )
Supplement: jamanetwopen-e2331162-s001.pdf
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
Electron transfer flavoprotein deficiency: functional and molecular aspects.
Schiff M et al.
Molecular Genetics and Metabolism, 2006
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