Personas / Equipo Humano

Jaume Campistol Plana

Buscador de publicaciones

Publicaciones

  • 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 47

    [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. Nº de citas: 24

    [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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 30

    [doi:10.1016/j.ymgme.2011.07.015]

  • Ortez-Gonzalez CI, Villar C, Fons-Estupina C, Duarte ST, Pérez A, García-Villoria J, Ribes A, Ormazabal-Herrero A, Casado-Rio M, Campistol-Plana J, Vilaseca MA and Garcia-Cazorla A.

    Undetectable Levels of CSF Amyloid-ß Peptide in a Patient with 17ß-Hydroxysteroid Dehydrogenase Deficiency

    JOURNAL OF ALZHEIMERS DISEASE . 27(2): 253-257. Nº de citas: 6

    [doi:10.3233/JAD-2011-110647]

  • Russi ME, González V and Campistol-Plana J.

    Cerebral venous thromboses in the paediatric age: clinical presentation, risk factors, diagnosis and treatment

    REVISTA DE NEUROLOGIA . 51(11): 661-668. Nº de citas: 3

    [doi:10.33588/rn.5111.2010355]

  • García-Villoria J, Gort L, Madrigal I, Fons-Estupina C, Fernández C, Navarro-Sastre A, Milà M, Briones P, Garcia-Cazorla A, Campistol-Plana J and Ribes A.

    X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17ß-hydroxysteroid dehydrogenase 10 deficiency

    EUROPEAN JOURNAL OF HUMAN GENETICS . 18(12): 1353-1355. Nº de citas: 9

    [doi:10.1038/ejhg.2010.118]