Results 181 to 190 of about 3,547 (200)

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2021
Curtis R Coughlin Ii, Laura Tseng, François Boemer   +2 more
exaly  

Pyridoxine-dependent epilepsy: case report

Neuropediatrics, 2013
H Schober, K Konzett, J Lütschg, E Paschke, B Plecko, B Simma   +5 more
openaire   +1 more source

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism, 2022
Laura Tseng, Daniela Buhas, Hans Hartmann   +2 more
exaly  

Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures

Brain Sciences, 2022
Konrad Kaminiów, Renata Pająk, Justyna Paprocka   +2 more
exaly  

Reduced GABA synthesis in pyridoxine-dependent seizures

Lancet, The, 1994
Sidney M Gospe Jr
exaly  

Current knowledge for pyridoxine-dependent epilepsy: a 2016 update

Expert Review of Endocrinology and Metabolism, 2017
Alex Mackenzie, Izabella Pena
exaly  

Identification of a novel biomarker for pyridoxine‐dependent epilepsy: Implications for newborn screening

Journal of Inherited Metabolic Disease, 2019
Amit Kumar, Vijay Kumar, Wyatt W Yue
exaly  

Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: l-arginine supplementation alternative to lysine-restricted diet

European Journal of Paediatric Neurology, 2014
Saadet Mercimek-Mahmutoglu
exaly  

Pyridoxine-dependent Epilepsy With Elevated Urinary α-Amino Adipic Semialdehyde in Molybdenum Cofactor Deficiency

Pediatrics, 2012
Benjamin Nota, Brahim Tabarki
exaly  

Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up

Electroencephalography and Clinical Neurophysiology, 1991
Mohamad A Mikati, Edwin Trevathan
exaly