Publications
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Arias A, Corbella M, Fons-Estupina C, Sempere A, García-Villoria J, Ormazabal-Herrero A, Poo P, Pineda M, Vilaseca MA, Campistol-Plana J, Briones P, Pàmpols T, Salomons GS, Ribes A and Artuch-Iriberri R.
Creatine transporter deficiency:: Prevalence among patients with mental retardation and pitfalls in metabolite screening
CLINICAL BIOCHEMISTRY . 40(16-17): 1328-1331. Number of citations: 53
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Garcia-Cazorla A, Serrano M, Pérez-Dueñas B, González V, Ormazabal-Herrero A, Pineda M, Fernández-Alvarez E, Campistol-Plana J and Artuch-Iriberri R.
Secondary abnormalities of neurotransmitters in infants with neurological disorders
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 49(10): 740-744. Number of citations: 37
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Ramaekers VT, Sequeira JM, Artuch-Iriberri R, Blau N, Temudo T, Ormazabal-Herrero A, Pineda M, Aracil A, Roelens F, Laccone F and Quadros EV.
Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome
Neuropediatrics . 38(4): 179-183. Number of citations: 50
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Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Artuch-Iriberri R, Coroleu W, Krauel Vidal X, Campistol-Plana J and Garcia-Cazorla A.
Perinatal asphyxia may cause reduction in csf dopamine metabolite concentrations
Neurology . 69(3): 311-313. Number of citations: 5
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López-Laso E, Camino R, Mateos ME, Pérez-Navero JL, Ochoa JJ, Lao-Villadóniga JI, Ormazabal-Herrero A and Artuch-Iriberri R.
Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency
JOURNAL OF THE NEUROLOGICAL SCIENCES . 256(1-2): 90-93. Number of citations: 13
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Arias A, Ormazabal-Herrero A, Moreno J, González B, Vilaseca MA, García-Villoria J, Pàmpols T, Briones P, Artuch-Iriberri R and Ribes A.
Methods for the diagnosis of creatine deficiency syndromes:: A comparative study
JOURNAL OF NEUROSCIENCE METHODS . 156(1-2): 305-309. Number of citations: 31
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López-Laso E, Ormazabal-Herrero A, Camino R, Gascón FJ, Ochoa JJ, Mateos ME, Muñoz MJ, Pérez-Navero JL, Lao JI, Vilaseca MA and Artuch-Iriberri R.
Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency
CLINICAL BIOCHEMISTRY . 39(9): 893-897. Number of citations: 7
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Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Gonzalez V, Fernández-Alvarez E, Pineda M, Campistol-Plana J and Artuch-Iriberri R.
Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients:: Reference values for a paediatric population
CLINICA CHIMICA ACTA . 371(1-2): 159-162. Number of citations: 44
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Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Pineda M, Ruiz A, López Laso E, García Silva M, Carilho I, Barbot C, Cormand B, Ribases M, Moller L, Fernández-Alvarez E, Campistol-Plana J and Artuch-Iriberri R.
Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier
MEDICINA CLINICA . 127(3): 81-85. Number of citations: 7
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Pineda M, Ormazabal-Herrero A, López-Gallardo E, Nascimento-Osorio A, Solano A, Herrero MD, Vilaseca MA, Briones P, Ibañez-Toda L, Montoya J and Artuch-Iriberri R.
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion
ANNALS OF NEUROLOGY . 59(2): 394-398. Number of citations: 92