Publications
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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. Number of citations: 9
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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: 31
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Tondo M, Lambruschini N, Gomez-Lopez L, Gutierrez A, Moreno J, Garcia-Cazorla A, Pérez-Dueñas B, Pineda M, Campistol-Plana J, Vilaseca MA and Artuch-Iriberri R.
The monitoring of trace elements in blood samples from patients with inborn errors of metabolism
JOURNAL OF INHERITED METABOLIC DISEASE . 33: 43-49. Number of citations: 2
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Serrano M, Vilaseca MA and Campistol-Plana J.
Inborn errors of metabolism and sports
Apunts Sport Medicine . 45(167): 185-189.
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Herranz JL, Casas-Fernández C, Campistol-Plana J, Campos-Castelló J, Rufo-Campos M, Torres-Falcón A and de Rosendo J.
Lennox-Gastaut syndrome in Spain: a descriptive retrospective epidemiological study
REVISTA DE NEUROLOGIA . 50(12): 711-717. Number of citations: 8
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Iqbal F, Item CB, Vilaseca MA, Jalan A, Mühl A, Couce ML, Duat A, Delgado MP, Bosch J, Puche A, Campistol-Plana J, Pineda M and Bodamer OA.
The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC)
MOLECULAR GENETICS AND METABOLISM . 100(1): 42-45. Number of citations: 15
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López-Sala A, Palacio-Navarro A, Donaire A, García G, Colomé-Roura R, Boix Lluch C, Sans A, Campistol-Plana J and Sanmartí FX.
Variables predictoras de retraso mental en una unidad de monitorización videoelectroencefalográfica pediátrica. Evaluación neuropsicológica.
REVISTA DE NEUROLOGIA . 50 Suppl 3(s3): 59-67. Number of citations: 1
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Vilaseca MA, Lambruschini N, Gomez-Lopez L, Gutiérrez A, Moreno J, Tondo M, Artuch-Iriberri R and Campistol-Plana J.
Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin
CLINICAL BIOCHEMISTRY . 43(4-5): 411-415. Number of citations: 17
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Russi ME, González G, Crosa R, Pérez-Dueñas B, González-Alvarez V, Campistol-Plana J and Solá-Martínez T.
Dissections of craniocervical arteries in the paediatric age: a pathology that is emerging or under-diagnosed?
REVISTA DE NEUROLOGIA . 50(5): 257-264. Number of citations: 5
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Marín-Valencia I, Vilaseca MA, Thió M, Garcia-Cazorla A, Artuch-Iriberri R and Campistol-Plana J.
Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 14(2): 125-130. Number of citations: 10