Atypical Pyridoxine Dependent Epilepsy in a Newborn [PDF]
Pediatric Oncall, 2019 Ravi Teja Jaladi +3 more
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Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1 [PDF]
, 2018 Ziyad S. Haidar +5 more
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Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes. [PDF]
Mol Genet Metab Rep, 2022 Tseng LA +9 more
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Pyridoxine‐dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non‐specific EEG characteristics [PDF]
, 2010 Sídney M. Gospe
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Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy. [PDF]
J Clin Invest, 2021 Engelke UF +30 more
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Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1? [PDF]
PLoS One, 2021 Minenkova A +7 more
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The effects of vitamin B in depression [PDF]
, 2016 Apostolopoulos, Vasso +2 more
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Pyridoxine-Dependent Epilepsy Mimicking as Congenital Muscular Dystrophy [PDF]
Bhanudeep Singanamalla +2 more
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Clinical and genetic features in pyridoxine‐dependent epilepsy: a Chinese cohort study [PDF]
, 2019 Xianru Jiao +6 more
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