Results 161 to 170 of about 2,887,246 (174)

Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review

Brain and Development, 2018
Elena Martín-Hernández, Maria Soriano-Ramos   +1 more
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

Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy

Metabolic Brain Disease, 2016
Saadet Mercimek-Mahmutoglu, Shelly Weiss, Theodora Bruun   +2 more
exaly  

Current knowledge for pyridoxine-dependent epilepsy: a 2016 update

Expert Review of Endocrinology and Metabolism, 2017
Clara van Karnebeek
exaly  

Pyridoxine-dependent epilepsy owing to antiquitin deficiency — mutation in theALDH7A1gene

Paediatrics and International Child Health, 2013
Beena Suresh, E A Struys, Sujatha Jagadeesh   +2 more
exaly  

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

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

Long-Term Treatment Outcome of two Patients With Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Mutations

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

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

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

A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1

Pediatric Neurology, 2016
Muhammad Mahajnah, Saadet Mercimek-Mahmutoglu   +1 more
exaly