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Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability Through Next-Generation Metabolic Screening

Laura A. Tseng,Udo F. H. Engelke,Marleen C. D. G. Huigen,Leo A. J. Kluijtmans,Charlotte A. Haaxma,David A. Koolen,Levinus A. Bok,Jason N. Wright,Sidney M. Gospe,Mirian C. H. Janssen,Clara D. M. van Karnebeek,Karlien L. M. Coene

Clinical Chemistry（2021）

引用 0|浏览20
关键词
inherited metabolic disorders,untargeted metabolomics,biomarkers,pyridoxine dependent epilepsy
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