Results 141 to 150 of about 1,834 (152)

Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency

International Journal of Molecular Sciences, 2022
Eylert Brodtkorb, Mazyar Yazdani, Katja Benedikte Prestø Elgstøen   +2 more
exaly  

Aldehyde Dehydrogenase 7A1 (ALDH7A1) Is a Novel Enzyme Involved in Cellular Defense against Hyperosmotic Stress

Journal of Biological Chemistry, 2010
Valeria V Orlova, Triantafyllos Chavakis, Aglaia Pappa   +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  

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

European Journal of Paediatric Neurology, 2018
Elisa Bettella, Alessandra Murgia, Alberto Burlina   +2 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  

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

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  

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine‐dependent seizure (PDS) patients

Epilepsia, 2009
Sidney M Gospe, Craig Bennett
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-Andrews, Eduard Struys, Keith Hyland   +2 more
exaly  

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