Results 151 to 160 of about 3,547 (200)

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

Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy. [PDF]

J Inherit Metab Dis, 2020
Laciak AR, Korasick DA, Gates KS, Tanner JJ.   +3 more
europepmc   +1 more source

Pyridoxine-Dependent Epilepsy

, 2019
openaire   +2 more sources

B-Vitamine und Epilepsie [PDF]

, 1990
Krause, Klaus-Henning
core   +1 more source

Neonatal seizures: Case definition & guidelines for data collection, analysis, and presentation of immunization safety data. [PDF]

, 2019
Abend, Anand, Andre, Anju Shrestha, Armentrout, Aung Soe, Barlow, Beckie Tagbo, Bonhoeffer, Booth, Boylan, Boylan, Bray, Bye, Cecil D. Hahn, Clancy, Clancy, Connolly, Cross, de Vries, Elissa Yozawitz, Fisher, Fisher, Fisher, Flor M. Munoz, Geraldine Boylan, Ghanshyambhai, Glass, Glass, Glass, Glass, Helena C. Maltezou, Heljic, Holanda, Huntsman, Institute of Medicine, James Oleske, Janackova, Jane Gidudu, Janet S. Soul, Jo Wilmshurst, Jones, Jyoti Joshi, Kabakus, Karina Top, Katsarou, Kharoshankaya, Kohl, Kollencheri Puthenveettil Vinayan, Kuratani, Lanska, Lanska, Lateef, Lee Meller, Lewis, Malone, Manoja Kumar Das, Maurer, Max Wiznitzer, Merita Kucuku, Michael Padula, Mizrahi, Moher, Murray, Mwaniki, Nagarajan, Niranjan Bhat, Orivoli, Paul T. Heath, Pinchefsky, Pisani, Pisani, Pisani, Plouin, Pressler, Pressler, Quinn, Rakshasbhuvankar, Rehman Malik, Roland, Ronen, Ronen, Ronit M. Pressler, Sabzehei, Sadeghian, Saliba, Sands, Sanie Sesay, Satinder Aneja, Scheffer, Scher, Scher, Schulz, Serena Pellegrin, Shah, Shellhaas, Sonali Kochhar, Stroup, Tekgul, Thwaites, Top, Tsuchida, Vasudevan, Vesoulis, Volpe, Volpe, Volpe, Volpe, Weeke, Weeke, Weiner, Wikstrom, Winter, World Health Organization, World Health Organization, World Health Organization, World Health Organization, Yildiz, Yozawitz   +118 more
core   +5 more sources

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

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency [PDF]

, 2017
et al,, Pearson, Toni S
core   +1 more source

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy. [PDF]

J Inherit Metab Dis, 2019
Coughlin CR, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK.   +16 more
europepmc   +1 more source

Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy. [PDF]

Sci Rep, 2019
Xue J, Wang J, Gong P, Wu M, Yang W, Jiang S, Wu Y, Jiang Y, Zhang Y, Yuzyuk T, Li H, Yang Z.   +11 more
europepmc   +1 more source