Results 161 to 170 of about 3,050,532 (174)

Current Knowledge for Pyridoxine-Dependent Epilepsy: A 2016 Update

Expert Review of Endocrinology and Metabolism, 2017
Izabella Pena
exaly  

Electroclinical Variability of Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Gene Mutations in Four Taiwanese Children

Brain and Development, 2020
Ching-Shiang Chi, Chi-Ren Tsai
exaly  

Pyridoxine dependent epilepsy and antiquitin deficiency

Molecular Genetics and Metabolism, 2011
Sylvia Stockler, Barbara Plecko, Sidney M. Gospe, Marion Coulter-Mackie, Mary Connolly, Clara van Karnebeek, Saadet Mercimek-Mahmutoglu, Hans Hartmann, Gunter Scharer, Eduard Struijs, Ingrid Tein, Cornelis Jakobs, Peter Clayton, Johan L.K. Van Hove   +13 more
openaire   +1 more source

Identification of a Novel Biomarker for Pyridoxine-Dependent Epilepsy: Implications for Newborn Screening

Journal of Inherited Metabolic Disease, 2019
Wyatt W Yue, Michael A Swanson
exaly  

Long-Term Treatment Outcome of Two Patients With Pyridoxine-Dependent Epilepsy Caused byALDH7A1 Mutations

Journal of Child Neurology, 2015
Saadet Mercimek-Mahmutoglu, Elizabeth J Donner, Eva Mamak   +2 more
exaly  

Pyridoxine-Dependent Epilepsy: EEG Investigations and Long-Term Follow-Up

Electroencephalography and Clinical Neurophysiology, 1991
Mohamad A. Mikati, Norman Edwin Trevathan, Cesare T Lombroso   +2 more
exaly  

Hydrocephalus in Pyridoxine-Dependent Epilepsy: New Case and Literature Review

Brain and Development, 2018
Ana Camacho-Salas, Virginia Navarro-Abia
exaly  

Pyridoxine-Dependent Epilepsy Owing to Antiquitin Deficiency — Mutation in the ALDH7A1 Gene

Paediatrics and International Child Health, 2013
Beena Suresh, Sujatha Jagadeesh
exaly  

Obstructive Hydrocephalus in Pyridoxine-Dependent Epilepsy: An Uncommon Complication

Pediatric Neurology, 2017
Renu Suthar, Shiv S. Saini, Jitendra K. Sahu, Pratibha Singhi   +3 more
openaire   +2 more sources

Corpus Callosum Diffusion and Connectivity Features in High Functioning Subjects With Pyridoxine-Dependent Epilepsy

Pediatric Neurology, 2016
Seth D Friedman, Sidney M Gospe, Dennis W W Shaw   +2 more
exaly