Results 151 to 160 of about 3,724 (217)

Academic paediatrics:Easter Island or Easter Sunday? [PDF]

, 2005
Savill, J
core   +2 more sources

Epilepsy as a Pyridoxine-Dependent Condition: Quantitative Urinary Biomarkers of Epilepsy. Family Disorders of Pyridoxine Metabolism

, 2016
Svetlana Dolina
openalex   +2 more sources

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 – 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

Pyridoxine dependent epilepsy. Diagnostics and outcome of the Dutch patients

, 2013
Levinus A. Bok
openalex   +1 more source

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies [PDF]

, 2018
Thio, Liu Lin, Weisenberg, Judith
core   +1 more source

Presentation 1_Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.pptx

Xixi Yu (9911322), Xin Zhang (35492), Shiyan Qiu (22179229), Li Yang (6520), Xin Li (51274), Dongyu Shi (22179232)   +5 more
openalex   +1 more source

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