Publications
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Garcia-Cazorla A, Ortez-Gonzalez CI, Pérez-Dueñas B, Serrano M, Pineda M, Campistol-Plana J and Fernández-Alvarez E.
Hypokinetic-rigid syndrome in children and inborn errors of metabolism
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 15(4): 295-302. Number of citations: 10
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Serrano M, Ormazabal-Herrero A, Vilaseca MA, Lambruschini N, Garcia-Romero R, Meavilla S, Pérez-Dueñas B, Pineda M, Garcia-Cazorla A, Campistol-Plana J and Artuch-Iriberri R.
Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders
CLINICAL BIOCHEMISTRY . 44(8-9): 742-744. Number of citations: 7
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Ormazabal-Herrero A, Pérez-Dueñas B, Sierra-March C, Urreitzi R, Montoya J, Serrano M, Campistol-Plana J, Garcia-Cazorla A, Pineda M and Artuch-Iriberri R.
Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency
CLINICAL BIOCHEMISTRY . 44(8-9): 719-721. Number of citations: 12
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Pérez-Dueñas B, Ormazabal-Herrero A, Toma C, Torrico B, Cormand B, Serrano M, Sierra-March C, De Grandis E, Pineda M, Garcia-Cazorla A, Campistol-Plana J, Pascual JM and Artuch-Iriberri R.
Cerebral Folate Deficiency Syndromes in Childhood Clinical, Analytical, and Etiologic Aspects
Archives of Neurology . 68(5): 615-621. Number of citations: 50
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Pérez-Dueñas B, Toma C, Ormazabal-Herrero A, Muchart-Lopez J, Sanmartí F, Bombau G, Serrano M, Garcia-Cazorla A, Cormand B and Artuch-Iriberri R.
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene
JOURNAL OF INHERITED METABOLIC DISEASE . 33(6): 795-802. Number of citations: 48
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De Grandis E, Serrano M, Pérez-Dueñas B, Ormazabal-Herrero A, Montero-Sanchez R, Veneselli E, Pineda M, González V, Sanmartí F, Fons-Estupina C, Sans A, Cormand B, Puelles L, Alonso A, Campistol-Plana J, Artuch-Iriberri R and Garcia-Cazorla A.
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders
JOURNAL OF INHERITED METABOLIC DISEASE . 33(6): 803-809. Number of citations: 33
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Serrano M, Vilaseca MA and Campistol-Plana J.
Inborn errors of metabolism and sports
APUNTS SPORTS MEDICINE . 45(167): 185-189.
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Serrano M, García-Silva MT, Martin-Hernandez E, O'Callaghan-Gordo M, Quijada P, Martinez-Aragón A, Ormazabal-Herrero A, Blázquez A, Martín-Mateos MA, Briones P, López-Gallardo E, Ruiz-Pesini E, Montoya J, Artuch-Iriberri R and Pineda M.
Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features
Mitochondrion . 10(5): 429-432. Number of citations: 47
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Pons R, Serrano M, Ormazabal-Herrero A, Toma C, Garcia-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B and Artuch-Iriberri R.
Tyrosine Hydroxylase Deficiency in Three Greek Patients with a Common Ancestral Mutation
MOVEMENT DISORDERS . 25(8): 1086-1090. Number of citations: 17
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Serrano M, Martins C, Pérez-Dueñas B, Gomez-Lopez L, Murgui E, Fons-Estupina C, Garcia-Cazorla A, Artuch-Iriberri R, Jara F, Arranz JA, Häberle J, Briones P, Campistol-Plana J, Pineda M and Vilaseca MA.
Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients
JOURNAL OF CHILD NEUROLOGY . 25(3): 352-358. Number of citations: 28