Associated Papers
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S et al.
Molecular Genetics & Genomic Medicine, 2023
Next-generation sequencing as a second-tier diagnostic test for newborn screening.
Luo X et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
Stranneheim H et al.
Bmc Genomics, 2014
Mutation analysis in 54 propionic acidemia patients.
Kraus JP et al.
Journal of Inherited Metabolic Disease, 2012
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