المؤلفون: Yubero, Dèlia^Aff7, Montero, Raquel^{Aff7, Aff9}, O’Callaghan, Mar^Aff7, Pineda, Mercè^Aff7, Meavilla, Silvia^Aff7, Delgadillo, Veronica^Aff7, Sierra, Cristina^Aff7, Altimira, Laura^Aff7, Navas, Plácido^{Aff9, Aff10}, Pope, Simon^Aff11, Oppenheim, Marcus^Aff11, Neergheen, Viruna^Aff11, Ghosh, Arunabha^Aff12, Mills, Phillipa^Aff13, Clayton, Peter^Aff13, Footitt, Emma^Aff13, Cleary, Maureen^Aff13, Hargreaves, Iain^Aff11, Jones, Simon A.^Aff12, Heales, Simon^{Aff8, Aff11, Aff13}, Artuch, Rafael^{Aff7, Aff9}

المساهمون: Morava, Eva, editor^Aff1, Baumgartner, Matthias, editor^Aff2, Patterson, Marc, editor^Aff3, Rahman, Shamima, editor^Aff4, Zschocke, Johannes, editor^Aff5, Peters, Verena, editor^Aff6

المصدر: JIMD Reports, Volume 25. 25:1-7

المؤلفون: Footitt, Emma J., Clayton, Peter T., Mills, Kevin, Heales, Simon J., Neergheen, Viruna, Oppenheim, Marcus, Mills, Philippa B.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. January 2013 36(1):139-145

المؤلفون: Footitt, Emma J., Heales, Simon J., Mills, Philippa B., Allen, George F. G., Oppenheim, Marcus, Clayton, Peter T.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. April 2011 34(2):529-538

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المؤلفون: Allen, George F. G., Neergheen, Viruna, Oppenheim, Marcus, Fitzgerald, Julia C., Footitt, Emma, Hyland, Keith, Clayton, Peter T., Land, John M., Heales, Simon J. R.

المصدر: Journal of Neurochemistry; Jul2010, Vol. 114 Issue 1, p87-96, 10p, 1 Diagram, 1 Chart, 4 Graphs

مصطلحات موضوعية: VITAMIN B6 deficiency, VITAMIN deficiency, AROMATIC amino acid decarboxylases, NEUROTRANSMITTERS, NEUROBLASTOMA, DEOXYPYRIDOXINE

المؤلفون: Foley, A Reghan, Menezes, Manoj P, Pandraud, Amelie, Gonzalez, Michael A, Al-Odaib, Ahmad, Abrams, Alexander J, Sugano, Kumiko, Yonezawa, Atsushi, Manzur, Adnan Y, Burns, Joshua, Hughes, Imelda, McCullagh, B Gary, Jungbluth, Heinz, Lim, Ming J, Lin, Jean-Pierre, Megarbane, Andre, Urtizberea, J Andoni, Shah, Ayaz H, Antony, Jayne, Webster, Richard, Broomfield, Alexander, Ng, Joanne, Mathew, Ann A, O'Byrne, James J, Forman, Eva, Scoto, Mariacristina, Prasad, Manish, O'Brien, Katherine, Olpin, Simon, Oppenheim, Marcus, Hargreaves, Iain, Land, John M, Wang, Min X, Carpenter, Kevin, Horvath, Rita, Straub, Volker, Lek, Monkol, Gold, Wendy, Farrell, Michael O, Brandner, Sebastian, Phadke, Rahul, Matsubara, Kazuo, McGarvey, Michael L, Scherer, Steven S, Baxter, Peter S, King, Mary D, Clayton, Peter, Rahman, Shamima, Reilly, Mary M, Ouvrier, Robert A, Christodoulou, John, Züchner, Stephan, Muntoni, Francesco, Houlden, Henry

مصطلحات موضوعية: Male, Adolescent, Genotype, riboflavin therapy, RFVT2, Hearing Loss, Sensorineural, Riboflavin, Bulbar Palsy, Progressive, childhood neuronopathy, Receptors, G-Protein-Coupled, Young Adult, Sural Nerve, Carnitine, Image Processing, Computer-Assisted, Humans, Exome, Motor Neuron Disease, Child, Neurologic Examination, food and beverages, Brain, Sequence Analysis, DNA, Vitamins, Microarray Analysis, Magnetic Resonance Imaging, 3. Good health, Pedigree, Child, Preschool, Mutation, RNA, Brown-Vialetto-Van Laere syndrome, Female, SLC52A2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7cc1ef9c04eac9ea3367961ae1ef80f3

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