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Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 02/2017, Volume 465, pp. 5 - 10
We describe a new method for simultaneous measurement of monoamine metabolites (3-O-methyldopa [3-OMD], 3-methoxy-4-hydroxyphenylethyleneglycol [MHPG],... 
Folate receptor α defect | Neurotransmitters | 5-hydroxyindoleacetic acid | 5-methyltetrahydrofolate | Homovanillic acid | Aromatic l-amino acid decarboxylase deficiency | Cerebral folate deficiency | 3-methoxy-4-hydroxyphenylethyleneglycol | 3-O-methyldopa | Aromatic L-amino acid decarboxylase deficiency | POPULATION | PTERINS | SERUM | NEUROTRANSMITTER DISORDERS | CSF | 3-0-methyldopa | DOPAMINE | FLUORESCENCE DETECTION | SEROTONIN | MEDICAL LABORATORY TECHNOLOGY | CEREBRAL FOLATE-DEFICIENCY | HPLC | Folate receptor alpha defect | Folate Receptor 1 - cerebrospinal fluid | Limit of Detection | Reproducibility of Results | Chromatography, High Pressure Liquid - methods | Humans | Dihydroxyphenylalanine - analogs & derivatives | Tetrahydrofolates - cerebrospinal fluid | Fluorescence | Hydroxyindoleacetic Acid - cerebrospinal fluid | Dystonic Disorders - cerebrospinal fluid | Reference Values | Folate Receptor 1 - deficiency | Tyrosine - analogs & derivatives | Aromatic-L-Amino-Acid Decarboxylases - deficiency | Folate Receptor 1 - genetics | Methoxyhydroxyphenylglycol - cerebrospinal fluid | Dihydroxyphenylalanine - cerebrospinal fluid | Aromatic-L-Amino-Acid Decarboxylases - cerebrospinal fluid | Homovanillic Acid - cerebrospinal fluid | Neuroaxonal Dystrophies - cerebrospinal fluid | Measurement | Children | Metabolites | Health aspects | Detectors | Amino acids | High performance liquid chromatography | Folic acid
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 06/2013, Volume 55, Issue 6, pp. 559 - 566
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 4/2011, Volume 34, Issue 2, pp. 529 - 538
Journal Article
Fluids and Barriers of the CNS, ISSN 2045-8118, 12/2019, Volume 16, Issue 1, pp. 1 - 9
Abstract Background Cerebrospinal fluid (CSF) metabolomic investigations are a powerful tool for studying neurometabolic diseases. We aimed to assess the... 
Amino acids | Cerebrospinal fluid | Pterins | Biogenic amines | Blood contamination | Vitamins
Journal Article
Pteridines, ISSN 0933-4807, 08/2017, Volume 28, Issue 2, pp. 83 - 89
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2013, Volume 8, Issue 12, p. e83237
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 12/2010, Volume 33, Issue 6, pp. 803 - 809
Journal Article
Journal Article
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