Investigación

Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas

Buscador de publicaciones

Publicaciones

  • Colón C, Alvarez JV, Castaño C, Gutierrez-Solana LG, Marquez AM, O'Callaghan-Gordo M, Sánchez-Valverde F, Yeste C and Couce ML.

    A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study.

    Medicine . 96(19): . Nº de citas: 12

    [doi:10.1097/MD.0000000000006887]

  • Laporta O, Ballester J, Poo P, Macaya A, Meléndez-Plumed M, Vázquez E, Delgado I, Zubiaurre-Elorza L, Botellero VL, Narberhaus A, Toro-Tamargo E, Segarra D and Pueyo R.

    Proxy-reported quality of life in adolescents and adults with dyskinetic cerebral palsy is associated with executive functions and cortical thickness.

    QUALITY OF LIFE RESEARCH . 26(5): 1209-1222. Nº de citas: 25

    [doi:10.1007/s11136-016-1433-0]

  • 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 citas: 25

    [doi:10.1016/j.jpeds.2016.12.060]

  • Puerta P, Guillén A, Muchart-Lopez J, González V and Ferrer E.

    Cerebral Proliferative Angiopathy in a Child.

    PEDIATRIC NEUROSURGERY . 52(3): 214-216. Nº de citas: 9

    [doi:10.1159/000459629]

  • Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D, UK10K Consortium, Deciphering Developmental Disorders Study, NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Pérez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL and Kurian MA.

    Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

    NATURE GENETICS . 49(2): 223-237. Nº de citas: 166

    [doi:10.1038/ng.3740]

  • Wassenberg T, Molero M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch-Iriberri R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M and Opladen T.

    Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

    ORPHANET JOURNAL OF RARE DISEASES . 12: 12-12. Nº de citas: 163

    [doi:10.1186/s13023-016-0522-z]

  • Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S and Additional individual contributors.

    Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

    JOURNAL OF INHERITED METABOLIC DISEASE . 40(1): 75-101. Nº de citas: 170

    [doi:10.1007/s10545-016-9999-9]

  • Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR and Dionisi-Vici C.

    Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

    JOURNAL OF INHERITED METABOLIC DISEASE . 40(1): 21-48. Nº de citas: 194

    [doi:10.1007/s10545-016-9991-4]

  • Yubero-Siles D, Adin A, Montero-Sanchez R, Jou-Munoz C, Jimenez-Mallebrera C, Garcia-Cazorla A, Nascimento-Osorio A, O'Callaghan-Gordo M, Montoya J, Gort L, Navas P, Ribes A, Ugarte MD and Artuch-Iriberri R.

    A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

    SCIENTIFIC REPORTS . 6: 15-15. Nº de citas: 13

    [doi:10.1038/s41598-016-0008-1]

  • Irune Fernandez Prieto, Caprile C, Tinoco-González D, Bet Ristol Orriols, López-Sala A, Poo P, Pons-Gimeno F and Navarra J.

    Pitch perception deficits in nonverbal learning disability

    RESEARCH IN DEVELOPMENTAL DISABILITIES . 59: 378-386. Nº de citas: 3

    [doi:10.1016/j.ridd.2016.09.011]