Persones / Equip Humà

Mercedes Serrano Gimaré

Buscador de publicacions

Publicacions

  • Serrano NL, De Diego V, Cuadras-Palleja D, Martinez-Monseny T, Velázquez-Fragua R, López L, Felipe-Villalobos A, Gutiérrez-Solana LG, Macaya A, Pérez-Dueñas B and Serrano M.

    A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).

    ORPHANET JOURNAL OF RARE DISEASES . 12(1): 155-155. Nº de cites: 18

    [doi:10.1186/s13023-017-0707-0]

  • de Diego V, Martinez-Monseny T, Muchart-Lopez J, Cuadras-Palleja D, Montero-Sanchez R, Artuch-Iriberri R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A and Serrano M.

    Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

    JOURNAL OF INHERITED METABOLIC DISEASE . 40(5): 709-713. Nº de cites: 15

    [doi:10.1007/s10545-017-0028-4]

  • Puerta-Roldan P, Guillen-Quesada A, Carrasco-Torrents R, Muchart-Lopez J, Serrano M and Ferrer Vidal-Barraquer E.

    Hydrocephalus due to hyperplasia of the choroid plexuses in a patient with trisomy 9 mosaicism. A real diagnostic and therapeutic challenge

    REVISTA DE NEUROLOGIA . 65(3): 112-116. Nº de cites: 3

    [doi:10.33588/rn.6503.2017114]

  • Serrano M.

    Untreatable Fits of Hyperventilation/Apnea in Pitt-Hopkins Syndrome

    Global Journal of Intellectual & Developmental Disabilities . 1(2): 555573.

    [doi:10.19080/GJIDD.2017.01.555573]

  • Pérez-Cerdá C, Girós ML, Serrano M, Ecay MJ, Gort L, Pérez-Dueñas B, Medrano C, García-Alix A, Artuch-Iriberri R, Briones P and Pérez B.

    A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

    JOURNAL OF PEDIATRICS . 183: 170-170. Nº de cites: 25

    [doi:10.1016/j.jpeds.2016.12.060]

  • García-López R, de la Morena-Barrio ME, Alsina L, Pérez-Dueñas B, Jaeken J, Serrano M, Casado-Rio M and Hernández-Caselles T.

    Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)

    PLoS One . 11(7): . Nº de cites: 7

    [doi:10.1371/journal.pone.0158863]

  • Serrano M, Vilaseca MA and Pérez-Payarols J.

    Isotretinoin, Trimethylaminuria and the internet

    Journal of Rare Disorders: Diagnosis &Therapy . 2(1): 1-2.

  • Ortigoza-Escobar JD, Molero M, Arias A, De Oyarzabal-Sanz AL, Darín N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado-Rio M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, Artuch-Iriberri R and Pérez-Dueñas B.

    Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

    BRAIN . 139: 31-38. Nº de cites: 50

    [doi:10.1093/brain/awv342]

  • Serrano M, de Diego V, Muchart-Lopez J, Cuadras-Palleja D, Felipe A, Macaya A, Velazquez R, Poo P, Fons-Estupina C, O'Callaghan-Gordo M, Garcia-Cazorla A, Boix Lluch C, Robles B, Carratala F, Giros M, Briones P, Gort L, Artuch-Iriberri R, Perez-Cerda C, Jaeken J, Perez B and Pérez-Dueñas B.

    Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

    ORPHANET JOURNAL OF RARE DISEASES . 10: 138-138. Nº de cites: 46

    [doi:10.1186/s13023-015-0358-y]

  • Molero M, Serrano M, O'Callaghan-Gordo M, Sierra-March C, Pérez-Dueñas B, Garcia-Cazorla A and Artuch-Iriberri R.

    Clinical, etiological and therapeutic aspects of cerebral folate deficiency

    EXPERT REVIEW OF NEUROTHERAPEUTICS . 15(7): 793-802. Nº de cites: 20

    [doi:10.1586/14737175.2015.1055322]