Publications
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Arias-Dimas A, Vilaseca MA, Artuch-Iriberri R, Ribes A and Campistol-Plana J.
Diagnosis and treatment of brain creatine deficiency syndromes
REVISTA DE NEUROLOGIA . 43(5): 302-308. Number of citations: 18
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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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Artuch-Iriberri R, Brea-Calvo G, Briones P, Aracil A, Galván M, Espinós C, Corral J, Volpini V, Ribes A, Andreu AL, Palau F, Sánchez-Alcázar JA, Navas P and Pineda M.
Cerebellar ataxia with coenzyme Q10 deficiency:: Diagnosis and follow-up after coenzyme Q10 supplementation
JOURNAL OF THE NEUROLOGICAL SCIENCES . 246(1-2): 153-158. Number of citations: 75
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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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Pérez-Dueñas B, Pujol J, Soriano-Mas C, Ortiz H, Artuch-Iriberri R, Vilaseca MA and Campistol-Plana J.
Global and regional volume changes in the brains of patients with phenylketonuria
Neurology . 66(7): 1074-1078. Number of citations: 35
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Poo P, Arias A, Vilaseca MA, Ribes A, Artuch-Iriberri R, Sans A, Moreno A, Jakobs C and Salomons G.
X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism
JOURNAL OF INHERITED METABOLIC DISEASE . 29(1): 220-223. Number of citations: 64
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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
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Ormazabal-Herrero A, Artuch-Iriberri R, Vilaseca MA, Aracil A and Pineda M.
Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: Treatment with folinic acid
Neuropediatrics . 36(6): 380-385. Number of citations: 32
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Lambruschini N, Pérez-Dueñas B, Vilaseca MA, Mas A, Artuch-Iriberri R, Gassió-Subirachs R, Gomez-Lopez L, Gutiérrez A and Campistol-Plana J.
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy
MOLECULAR GENETICS AND METABOLISM . 86: 54-60. Number of citations: 81
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Ormazabal-Herrero A, Vilaseca MA, Pérez-Dueñas B, Lambruschini N, Gomez-Lopez L, Campistol-Plana J and Artuch-Iriberri R.
Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment
JOURNAL OF INHERITED METABOLIC DISEASE . 28(6): 863-870. Number of citations: 20