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Jaume Campistol Plana

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Publications

  • Ramírez-Camacho A, Meavilla S, Catalán N, Gutiérrez A and Campistol-Plana J.

    Experience with ketogenic diet as treatment for refractory epilepsy

    REVISTA DE NEUROLOGIA . 53(9): 524-530. Number of citations: 7

    [doi:10.33588/rn.5309.2011062]

  • Couce ML, Pérez-Cerdá C, García Silva MT, Garcia-Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol-Plana J, Fraga JM, Pérez B and Ugarte M.

    Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease

    MEDICINA CLINICA . 137(11): 500-503. Number of citations: 8

    [doi:10.1016/j.medcli.2011.01.018]

  • 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

    [doi:10.1016/j.ejpn.2011.04.013]

  • 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

    [doi:10.1016/j.clinbiochem.2011.03.136]

  • 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

    [doi:10.1016/j.clinbiochem.2011.03.002]

  • 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

    [doi:10.1001/archneurol.2011.80]

  • Campistol-Plana J, Gassió-Subirachs R, Artuch-Iriberri R and Vilaseca MA.

    Neurocognitive function in mild hyperphenylalaninemia

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 53(5): 405-408. Number of citations: 26

    [doi:10.1111/j.1469-8749.2010.03869.x]

  • Sans A, Colomé-Roura R, López-Sala A, Boix Lluch C, Muchart-Lopez J, Rebollo M, Guitet M, Callejón L and Campistol-Plana J.

    Developmental amnesia as a focal cognitive sequela of a neonatal pathology

    REVISTA DE NEUROLOGIA . 52(1): 29-38. Number of citations: 2

    [doi:10.33588/rn.52S01.2010803]

  • Alcaide P, Merinero B, Ruiz-Sala P, Richard E, Navarrete R, Arias A, Ribes A, Artuch-Iriberri R, Campistol-Plana J, Ugarte M and Rodríguez-Pombo P.

    Defining the Pathogenicity of Creatine Deficiency Syndrome

    HUMAN MUTATION . 32(3): 282-291. Number of citations: 27

    [doi:10.1002/humu.21421]

  • González MJ, Gutiérrez AP, Gassió-Subirachs R, Fusté ME, Vilaseca MA and Campistol-Plana J.

    Neurological complications and behavioral problems in patients with phenylketonuria in a Follow-up Unit

    MOLECULAR GENETICS AND METABOLISM . 104(S): 73-79. Number of citations: 30

    [doi:10.1016/j.ymgme.2011.07.015]