Results 141 to 150 of about 1,711 (154)

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

Journal of Child Neurology, 2015
Saadet Mercimek-Andrews, Elizabeth Donner   +1 more
exaly  

Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children

Brain and Development, 2020
Ching-Shiang Chi, Hsiu-Fen Lee
exaly  

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

Journal of Inherited Metabolic Disease, 2019
Wyatt Yue, Michael Swanson
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  

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: EEG investigations and long-term follow-up

Electroencephalography and Clinical Neurophysiology, 1991
Mohamad Mikati, Edwin Trevathan, Kalpathy S Krishnamoorthy   +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

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-Andrews, Eduard Struys   +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  

Pipecolic Acid as a Diagnostic Marker of Pyridoxine-Dependent Epilepsy

Neuropediatrics, 2005
Barbara Plecko, S Stöckler-Ipsiroglu
exaly