Results 181 to 187 of about 3,184 (187)

Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1

Chemico-Biological Interactions
Aldehyde dehydrogenase 7A1 (ALDH7A1) catalyzes a step of lysine catabolism. Certain missense mutations in the ALDH7A1 gene cause pyridoxine dependent epilepsy (PDE), a rare autosomal neurometabolic disorder with recessive inheritance that affects almost 1:65,000 live births and is classically characterized by recurrent seizures from the neonatal period.
David A. Korasick, David P. Buckley, Alessandra Palpacelli, Ida Cursio, Elisabetta Cesaroni, Jianlin Cheng, John J. Tanner   +6 more
openaire   +2 more sources

ALDH7A1 Gene and Its Related Pyridoxine-Dependent Epilepsy

Journal of Pediatric Neurology
Flavia M.C. LA MENDOLA, Tiziana TIMPANARO, Daniela CARUSO, Maria Teresa GAROZZO, Santiago PRESTI, Catia ROMANO, Elena R. PRATICÒ, Antonio ZANGHÌ, Raffaele Falsaperla   +8 more
openaire   +1 more source

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review

European Journal of Paediatric Neurology, 2018
Irene Toldo, Stefano Sartori, Alessandra Murgia   +2 more
exaly  

ALDH7A1 Expression is Associated with Recurrence in Patients with Surgically Resected Non-Small-Cell Lung Carcinoma

Future Oncology, 2013
Robert B Den, David P Carbone, Bo Lu
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  

Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations

Molecular Genetics and Metabolism, 2013
Saadet Mercimek-Mahmutoglu, Elizabeth J. Donner, Komudi Siriwardena   +2 more
openaire   +1 more source

ALDH7A1 gen mutasyonuna bağlı pridoksin bağımlı epilepsi: Altı olguluk tek merkez deneyimi.

2019
TEKİN ORGUN, LEMAN, EROL, İLKNUR
openaire   +1 more source