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

Autor: Tseng LA; Department of Pediatrics, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands., Engelke UFH; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands., Huigen MCDG; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands., Kluijtmans LAJ; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands., Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Bok LA; Department of Pediatrics, Máxima Medical Centre, Veldhoven, The Netherlands., Wright JN; Department of Radiology, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Gospe SM; Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, USA.; Department of Pediatrics, Duke University, Durham, NC, USA., Janssen MCH; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Coene KLM; United for Metabolic Diseases, Amsterdam, The Netherlands.; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
Jazyk: angličtina
Zdroj: Clinical chemistry [Clin Chem] 2022 May 18; Vol. 68 (5), pp. 732-735.
DOI: 10.1093/clinchem/hvab276
Databáze: MEDLINE