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by Crow, Y.J and Chase, D.S and Schmidt, J.L and Szynkiewicz, M and Forte, G.M.A and Gornall, H.L and Oojageer, A and Anderson, B and Pizzino, A and Helman, G and Abdel-Hamid, M.S and Abdel-Salam, G.M and Ackroyd, S and Aeby, A and Agosta, G and Albin, C and Allon-Shalev, S and Arellano, M and Ariaudo, G and Aswani, V and Babul-Hirji, R and Baildam, E.M and Bahi-Buisson, N and Bailey, K.M and Barnerias, C and Barth, M and Battini, R and Beresford, M.W and Bernard, G and Bianchi, M and de Villemeur, T.B and Blair, E.M and Bloom, M and Burlina, A.B and Carpanelli, M.L and Carvalho, D.R and Castro-Gago, M and Cavallini, A and Cereda, C and Chandler, K.E and Chitayat, D.A and Collins, A.E and Corcoles, C.S and Cordeiro, N.J.V and Crichiutti, G and Dabydeen, L and Dale, R.C and D'Arrigo, S and De Goede, C.G.E.L and de Laet, C and De Waele, L.M.H and Denzler, I and Desguerre, I and Devriendt, K and Di Rocco, M and Fahey, M.C and Fazzi, E and Ferrie, C.D and Figueiredo, A and Gener, B and Goizet, C and Gowrinathan, N.R and Gowrishankar, K and Hanrahan, D and Isidor, B and Kara, L and Khan, N and King, M.D and Kirk, E.P and Kumar, R and Lagae, L and Lanieu, P and Lauffer, H and Laugel, V and La Piana, R and Lim, M.J and Lin, J.P.S.M and Linnankivi, T and Mackay, M.T and Marom, D.R and Lourenco, C.M and McKee, S.A and Moroni, I and Morton, J.E.V and Moutard, M.L and Murray, K and Nabbout, R and Nampoothiri, S and Nunez-Enamorado, N and Oades, P.J and Olivieri, I and Ostergaard, J.R and Perez-Duenas, B and Prendiville, J.S and Ramesh, V and Rasmussen, M and Regal, L and Ricci, F and Rio, M and Knaap, M and ...
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2015, Volume 167, Issue 2, pp. 296 - 312
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2013, Volume 50, Issue 8, pp. 521 - 528
Journal Article
Journal Article
Journal Article
Nature Communications, ISSN 2041-1723, 09/2015, Volume 6, Issue 1, p. 8038
Journal Article
Analytical Chemistry, ISSN 0003-2700, 09/2017, Volume 89, Issue 17, pp. 8892 - 8900
We report the development of a rapid, simple, and robust LC–MS/MS-based enzyme assay using dried blood spots (DBS) for the diagnosis of pyridox­(am)­ine... 
ENCEPHALOPATHY | RIBOFLAVIN | CHEMISTRY, ANALYTICAL | PYRIDOXINE | ASSAY | PYRIDOXAMINE PHOSPHATE OXIDASE | METABOLISM | STABILITY | DISORDERS | MUTATIONS | MASS-SPECTROMETRY
Journal Article
Lakartidningen, 05/2018, Volume 115
In 2017 the International League Against Epilepsy (ILAE) published position papers outlining new classifications of seizures and epilepsies. The aims of the... 
Seizures - classification | Sweden | Societies, Medical | International Agencies | Humans | Epilepsy - classification
Journal Article
Lakartidningen, 05/2018, Volume 115
There are many episodic conditions which may be confused with epileptic seizures. The diagnosis of epileptic seizures is still dependent on a good history and... 
Journal Article
Lakartidningen, ISSN 0023-7205, 2018, Volume 115, Issue 21, p. 910
Journal Article
Lakartidningen, ISSN 0023-7205, 2018, Volume 115, Issue 21, p. 907
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Developmental Medicine & Child Neurology, ISSN 0012-1622, 12/2018, Volume 60, Issue 12, pp. 1251 - 1255
Journal Article
Neuropediatrics, ISSN 0174-304X, 06/2017, Volume 48, Issue 3, pp. 166 - 184