Recerca

Neurometabolisme pediàtric: mecanismes de comunicació neuronal i teràpies personalitzades

Buscador de publicacions

Publicacions

  • De Oyarzabal-Sanz AL, Bravo-Alonso I, Sánchez-Aragó M, Rejas MT, Merinero B, Garcia-Cazorla A, Artuch-Iriberri R, Ugarte M and Rodríguez-Pombo P.

    Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism

    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE . 1862(4): 592-600. Nº de cites: 24

    [doi:10.1016/j.bbadis.2016.01.016]

  • Valayannopoulos V, Baruteau J, Delgado MB, Cano A, Couce ML, Del Toro M, Donati MA, Garcia-Cazorla A, Gil-Ortega D, Gomez-de Quero P, Guffon N, Hofstede FC, Kalkan-Ucar S, Coker M, Lama-More R, Martinez-Pardo Casanova M, Molina A, Pichard S, Papadia F, Rosello P, Plisson C, Le Mouhaer J and Chakrapani A.

    Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

    ORPHANET JOURNAL OF RARE DISEASES . 11: 32-32. Nº de cites: 30

    [doi:10.1186/s13023-016-0406-2]

  • Jamiolkowski D, Kölker S, Glahn EM, Baric I, Zeman J, Baumgartner MR, Mühlhausen C, Garcia-Cazorla A, Gleich F, Haege G, Burgard P and E-IMD consortium.

    Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 39(2): 231-241. Nº de cites: 30

    [doi:10.1007/s10545-015-9887-8]

  • Asencio C, Rodríguez-Hernandez MA, Briones P, Montoya J, Cortés A, Emperador S, Gavilán A, Ruiz-Pesini E, Yubero-Siles D, Montero-Sanchez R, Pineda M, O'Callaghan-Gordo M, Alcázar-Fabra M, Salviati L, Artuch-Iriberri R and Navas P.

    Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content

    EUROPEAN JOURNAL OF HUMAN GENETICS . 24(3): 367-372. Nº de cites: 14

    [doi:10.1038/ejhg.2015.112]

  • Montero-Sanchez R, Yubero-Siles D, Villarroya-Terrade J, Henares-Bonilla D, Jou-Munoz C, Rodríguez-García MA, Ramos F, Nascimento-Osorio A, Ortez-Gonzalez CI, Campistol-Plana J, Pérez-Dueñas B, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Colomer J, Montoya J, Ruiz-Pesini E, Emperador S, Meznaric M, Campderros L, Kalko SG, Villarroya-Gombau F, Artuch-Iriberri R and Jimenez-Mallebrera C.

    GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

    PLoS One . 11(2): . Nº de cites: 119

    [doi:10.1371/journal.pone.0148709]

  • 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, Marti-Sanchez L, Rodriguez-Pombo, P, Artuch-Iriberri R and Pérez-Dueñas B.

    Treatment of genetic defects of thiamine transport and metabolism

    EXPERT REVIEW OF NEUROTHERAPEUTICS . 16(7): 755-763. Nº de cites: 27

    [doi:10.1080/14737175.2016.1187562]

  • Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou-Munoz C, O'Callaghan-Gordo M, Pineda M, Montero-Sanchez R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A and Tort F.

    A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

    Mitochondrion . 26: 72-80. Nº de cites: 19

    [doi:10.1016/j.mito.2015.12.004]

  • 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: 48

    [doi:10.1093/brain/awv342]

  • Pineda M, O'Callaghan-Gordo M, Fernandez Lopez A, Coll MJ, Rosendo Ullot Font and García-Fructuoso G.

    Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome

    JIMD Reports . 30: 6-14. Nº de cites: 1

    [doi:10.1007/8904_2016_530]