Results 111 to 120 of about 1,906 (168)

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

Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

, 2014
Clara van Karnebeek, Sylvia Stöckler‐Ipsiroglu, Sravan Jaggumantri, Birgit Assmann, Peter Baxter, Daniela Buhaş, Levinus A. Bok, Barbara Cheng, Curtis R. Coughlin, Anibh M. Das, Alette Giezen, Walla Al‐Hertani, Gloria Ho, Uta Meyer, Philippa B. Mills, Barbara Plecko, Eduard A. Struys, Keiko Ueda, Monique Albersen, Nanda M. Verhoeven, Sídney M. Gospe, Renata C. Gallagher, Johan K. L. Van Hove, Hans Hartmann   +23 more
openalex   +1 more source

Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy [PDF]

, 2012
Malcolm J. Proudfoot, Philip Jardine, Agne Straukiene, Rupert Noad, Andrew Parrish, Sian Ellard, Stuart Weatherby   +6 more
openalex   +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

Targeting Lysine α-Ketoglutarate Reductase to Treat Pyridoxine-Dependent Epilepsy. [PDF]

J Neurosci
Liang Z, Wu J, Liu Q, Qin D, Wang M, Zhong X, Guo W.   +6 more
europepmc   +1 more source

Pyridoxine-Dependent Epilepsy in Newborn – A Rare and Challenging Diagnosis [PDF]

Marjetka Pal, Aneta Soltirovska-Šalamon
openalex   +1 more source

Atypical Pyridoxine Dependent Epilepsy in a Newborn [PDF]

Pediatric Oncall, 2019
Ravi Teja Jaladi, Shrabani Mondal, Asim Kumar Mallick, Isita Tripathy   +3 more
openaire   +1 more source

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow. [PDF]

Int J Neonatal Screen
Donge M, Marie S, Pochet A, Marcelis L, Luis G, Boemer F, Prouteau C, Mesli S, Cuykx M, Nguyen-Khoa T, Guénet D, Empain A, Barth M, Dauriat B, Laroche-Raynaud C, De Laet C, Verloo P, Jonckheere AI, Schiff M, Nassogne MC, Dewulf JP.   +20 more
europepmc   +1 more source

Disrupted de novo pyrimidine biosynthesis impairs adult hippocampal neurogenesis and cognition in pyridoxine-dependent epilepsy. [PDF]

Sci Adv
Yan J, Wu J, Xu M, Wang M, Guo W.
europepmc   +1 more source

Structural and biochemical consequences of pyridoxine-dependent epilepsy mutations that target the aldehyde binding site of aldehyde dehydrogenase ALDH7A1. [PDF]

FEBS J, 2020
Laciak AR, Korasick DA, Wyatt JW, Gates KS, Tanner JJ.   +4 more
europepmc   +1 more source