Results 131 to 140 of about 3,547 (200)

Pyridoxine-dependent Epilepsy – Case Reports

Česká a slovenská neurologie a neurochirurgie, 2017
Štefánia Aulická, Lenka Fajkusová, P. Šilerová, Lia Elstnerová, František Jimramovský, Eva Dortová, Hana Ošlejšková   +6 more
openaire   +1 more source

Current trends in the treatment of infantile spasms

Neuropsychiatric Disease and Treatment, 2009
Chang-Yong TsaoClinical Pediatrics and Neurology, The Ohio State University, College of Medicine, Columbus, Ohio, USAAbstract: Infantile spasms are an epilepsy syndrome with distinctive features, including age onset during infancy, characteristic ...
Chang-Yong Tsao
doaj  

Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy. [PDF]

Anal Chem, 2021
van Outersterp RE, Engelke UFH, Merx J, Berden G, Paul M, Thomulka T, Berkessel A, Huigen MCDG, Kluijtmans LAJ, Mecinović J, Rutjes FPJT, van Karnebeek CDM, Wevers RA, Boltje TJ, Coene KLM, Martens J, Oomens J.   +16 more
europepmc   +1 more source

Liver Transplantation in PNPO Deficiency: Management Challenges and Biological Lessons

JIMD Reports
Pyridox(am)ine 5′ Phosphate Oxidase deficiency (PNPO) presents with refractory epilepsy responsive to treatment with pyridoxal 5′ phosphate (PLP) or pyridoxine.
Richard Webster, Bindu Parayil Sankaran, Sushil Bandodkar, Michael Stormon, Gordon Thomas, Albert Shun, David Geoffrey Bowen, Timothy Fielder, Peter Barclay, Youssef Khalil, Philippa Mills, Peter Clayton, Kaustuv Bhattacharya   +12 more
doaj   +1 more source

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy. [PDF]

J Clin Invest, 2021
Engelke UF, van Outersterp RE, Merx J, van Geenen FA, van Rooij A, Berden G, Huigen MC, Kluijtmans LA, Peters TM, Al-Shekaili HH, Leavitt BR, de Vrieze E, Broekman S, van Wijk E, Tseng LA, Kulkarni P, Rutjes FP, Mecinović J, Struys EA, Jansen LA, Gospe SM, Mercimek-Andrews S, Hyland K, Willemsen MA, Bok LA, van Karnebeek CD, Wevers RA, Boltje TJ, Oomens J, Martens J, Coene KL.   +30 more
europepmc   +1 more source

Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1? [PDF]

PLoS One, 2021
Minenkova A, Jansen EEW, Cameron J, Barto R, Hurd T, MacNeil L, Salomons GS, Mercimek-Andrews S.   +7 more
europepmc   +1 more source

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes. [PDF]

Mol Genet Metab Rep, 2022
Tseng LA, Teela L, Janssen MC, Bok LA, Willemsen MAAP, Neuteboom RF, Haverman L, Gospe SM, Coughlin CR, van Karnebeek CDM.   +9 more
europepmc   +1 more source

The effects of vitamin B in depression [PDF]

, 2016
Apostolopoulos, Vasso, Mikkelsen, Kathleen, Stojanovska, Lily   +2 more
core   +1 more source

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy. [PDF]

Genes (Basel)
Falsaperla R, Salvo E, Sapuppo A, Barberi C, Sortino V, Fusto G, Rizzo R, Pappalardo XG, Corsello G, Ruggieri M, Romano C, Saccuzzo L, Fichera M, Bonaglia MC.   +13 more
europepmc   +1 more source

Vitamin K as an add-on therapy in pyridoxine-dependent epilepsy. [PDF]

Mol Ther
Houten SM.
europepmc   +1 more source