关键词: DBS Dried blood spots Dried blood spots (DBS) NBS Newborn screening Newborn screening (NBS) P6C PDE Piperideine-6-carboxylate Pyridoxine-dependent epilepsy Pyridoxine-dependent epilepsy (PDE) α-AASA α-Aminoadipic semialdehyde (α-AASA) α-Aminoadipic semialdehyde antiquitin
Mesh : 2-Aminoadipic Acid / analogs & derivatives blood Biomarkers / blood Chromatography, Liquid Epilepsy / blood diagnosis genetics Female Humans Infant, Newborn Male Neonatal Screening Retrospective Studies Tandem Mass Spectrometry
来 源: DOI:10.1016/j.ymgme.2013.07.017