Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes
Background: Little is known about pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) in adulthood, as the genetic basis of the disorder has only been elucidated 15 years ago. This creates a knowledge gap for physicians, pediatric patients and their parents, which was aimed to address in this study using clinical data as well as patient-reported outcome measures (PROMs) for the patient's perspective. Methods: Dutch, genetically confirmed PDE-ALDH7A1 patients ≥18 years were eligible for inclusion. Clinical data were collected as well as PROMs (... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2022 |
Reihe/Periodikum: | Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100853- (2022) |
Verlag/Hrsg.: |
Elsevier
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Schlagwörter: | PDE-ALDH7A1 / Adults / Patient-reported outcomes / PROMIS / Medicine (General) / R5-920 / Biology (General) / QH301-705.5 |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26627410 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://doi.org/10.1016/j.ymgmr.2022.100853 |