المؤلفون: Ira Benkel, Argirios Dinopoulos, Eugen Boltshauser, Cornelia Betzler, Christine Coubes, Johannes Koch, Jan Lotte, Saskia B. Wortmann, Karin Brugger, Ron A. Wevers, Jörgen Bierau, Daisy Rymen, Julie D. Kaplan, Marieke Wermuth, Marianne Rohrbach, Hans Hartmann, Daniel N. Willis, Johannes A. Mayr, Mohammad Hasan Mohammadi, Martijn Lindhout, Farah Ashrafzadeh, Maria Spanou, Diana Ballhausen

المساهمون: University of Zurich, Wortmann, Saskia B, MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output

المصدر: Genetics in Medicine, 22(10), 1589-1597. Nature Publishing Group
Genetics in Medicine, 22, 10, pp. 1589-1597
Genetics in Medicine, 22, 1589-1597

مصطلحات موضوعية: 0301 basic medicine, 2716 Genetics (clinical), early infantile epileptic encephalopathy-50, Uridine Triacetate, 610 Medicine & health, Status epilepticus, 030105 genetics & heredity, Bioinformatics, 03 medical and health sciences, chemistry.chemical_compound, Epilepsy, Uridine monophosphate, Medicine, Humans, BRAIN, Nucleotide salvage, Uridine, Genetics (clinical), Genetic testing, Retrospective Studies, Newborn screening, medicine.diagnostic_test, business.industry, MUTATIONS, Infant, Newborn, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, anemia, ACIDURIA, developmental delay, 030104 developmental biology, chemistry, 10036 Medical Clinic, Dietary Supplements, medicine.symptom, business, Spasms, Infantile, Dyserythropoietic anemia, EIEE

وصف الملف: Expanding_the_clinical_and_genetic_spectrum_of_CAD_deficiency_an_epileptic_encephalopathy_treatable_with_uridine_supplementa.pdf - application/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8da38dbbefb38c486f491a6ba4870b84
https://pubmed.ncbi.nlm.nih.gov/32820246