Results 151 to 158 of about 2,516,365 (158)

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, Keith Hyland, Eva Mamak   +2 more
exaly  

Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation

European Journal of Paediatric Neurology, 2011
Federico Zara, Denise Cassandrini, Pasquale Striano   +2 more
exaly  

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

Future Oncology, 2013
Heidi Chen, Bo Lu, Robert Den
exaly  

Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine‐dependent seizures

Epilepsia, 2009
Pasquale Striano
exaly  

Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1

Seizure: the Journal of the British Epilepsy Association, 2018
Eliane Chouery, André Mégarbane
exaly  

The ALDH7A1 genetic polymorphisms contribute to development of esophageal squamous cell carcinoma

Tumor Biology, 2014
Qipeng Yuan, Ming Yang, Wenting Pan
exaly  

Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study

Frontiers in Neurology
Eylert Brodtkorb, Trond Sand, Trine Tangeraas   +2 more
exaly  

Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings

Frontiers in Psychiatry
Namik Kaya, Rawan Almass
exaly