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

Authors :: 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
Paediatrics
Paediatric Metabolic Diseases
Amsterdam Neuroscience - Cellular & Molecular Mechanisms
Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention
Amsterdam Gastroenterology Endocrinology Metabolism
Source :: Clinical chemistry, 68(5), 732-735. American Association for Clinical Chemistry Inc., Clinical Chemistry, 68, 5, pp. 732-735, Clinical Chemistry, 68, 732-735
Publication Year :: 2021
Abstract: Contains fulltext : 283153.pdf (Publisher’s version ) (Closed access)

Subjects :: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]
Epilepsy
Adolescent
Biochemistry (medical)
Clinical Biochemistry
biomarkers
Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0]
Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]
Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]
untargeted metabolomics
inherited metabolic disorders
Phenotype
Intellectual Disability
pyridoxine dependent epilepsy
Humans
Mass Screening

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