People / Staff

Jordi Muchart López

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Publications

  • Ortigoza-Escobar JD, Serrano M, Molero M, De Oyarzabal-Sanz AL, Rebollo M, Muchart-Lopez J, Artuch-Iriberri R, Rodríguez-Pombo P and Pérez-Dueñas B.

    Thiamine transporter-2 deficiency: outcome and treatment monitoring

    ORPHANET JOURNAL OF RARE DISEASES . 9: 92-92. Number of citations: 47

    [doi:10.1186/1750-1172-9-92]

  • Pereira E, Rebollo M, Muchart-Lopez J, Agut-Quijano T, García-Alix A and Fons-Estupina C.

    Agenesis of the corpus callosum in a newborn with turner mosaicism.

    Pediatric Reports . 6(2): 5112-5112.

    [doi:10.4081/pr.2014.5112]

  • Bilbao Meseguer N, Domingo-Garau A, Muchart-Lopez J and Alamar AM.

    Pott's puffy tumour: a forgotten condition?

    ANALES DE PEDIATRIA . 80(5): 337-338.

    [doi:10.1016/j.anpedi.2013.10.019]

  • Perez-Negueruela C, Mayol J, César-Díaz S, Muchart-Lopez J, Segura S and Caffarena-Calvar JM.

    Palliative switch: a surgical decision after hybrid procedure.

    WORLD JOURNAL FOR PEDIATRIC AND CONGENITAL HEART SURGERY . 5(1): 85-87.

    [doi:10.1177/2150135113512135]

  • Turon-Vinas E, Pineda M, Cusi V, Lopez-Laso E, Del Pozo RL, Gutierrez-Solana LG, Moreno DC, Sierra-Corcoles C, Olabarrieta-Hoyos N, Madruga-Garrido M, Aguirre-Rodriguez J, González V, O'Callaghan-Gordo M, Muchart-Lopez J and Armstrong-Moron J.

    Vanishing white matter disease in a spanish population.

    Journal of Central Nervous System Disease . 6: 59-68. Number of citations: 15

    [doi:10.4137/JCNSD.S13540]

  • Navallas M, Rebollo Polo M, Riaza L, Muchart-Lopez J and Maristany M.

    Artritis idiopática juvenil, peculiaridades de la imagen en la edad pediátrica con especial interés en la resonancia magnética.

    Radiologia . 55(5): 373-384.

    [doi:10.1016/j.rx.2012.11.004]

  • Pérez-Dueñas B, Serrano M, Rebollo M, Muchart-Lopez J, Gargallo-Burriel E, Dupuits C and Artuch-Iriberri R.

    Reversible Lactic Acidosis in a Newborn With Thiamine Transporter-2 Deficiency

    Pediatrics . 131(5): 1670-1675. Number of citations: 54

    [doi:10.1542/peds.2012-2988]

  • Serrano M, Rebollo M, Depienne C, Rastetter A, Fernández-Alvarez E, Muchart-Lopez J, Martorell-Sampol L, Artuch-Iriberri R, Obeso JA and Pérez-Dueñas B.

    Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency

    MOVEMENT DISORDERS . 27(10): 1295-1303. Number of citations: 33

    [doi:10.1002/mds.25008]

  • Grynnerup A, Sánchez-Fernández I, Calzada-Hernández J, Deyà-Martinez A, Muchart-Lopez J and García-Alix A.

    A Severe Valproate Overdose With Complete Recovery in a Newborn

    JOURNAL OF CHILD NEUROLOGY . 27(8): 1072-1076. Number of citations: 3

    [doi:10.1177/0883073811431497]

  • Casado-Rio M, O'Callaghan-Gordo M, Montero-Sanchez R, Pérez-Cerda C, Pérez B, Briones P, Quintana E, Muchart-Lopez J, Aracil A, Pineda M and Artuch-Iriberri R.

    Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)

    Cerebellum . 11(2): 557-563. Number of citations: 23

    [doi:10.1007/s12311-011-0313-y]