Investigación

Metabolómica y genética bioquímica

Buscador de publicaciones

Publicaciones

  • Reinhard C, Bachoud-Lévi AC, Bäumer T, Bertini E, Brunelle A, Buizer AI, Federico A, Gasser T, Groeschel S, Hermanns S, Klockgether T, Krägeloh-Mann I, Landwehrmeyer GB, Leber I, Macaya A, Mariotti C, Meissner WG, Molnar MJ, Nonnekes J, Ortigoza-Escobar JD, Pérez Dueñas B, Renna Linton L, Schöls L, Schuele R, Tijssen MAJ, Vandenberghe R, Volkmer A, Wolf NI and Graessner H.

    The European Reference Network for Rare Neurological Diseases.

    FRONTIERS IN NEUROLOGY . 11: 616569-616569. Nº de citas: 17

    [doi:10.3389/fneur.2020.616569]

  • Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B, Spanish Exome Crowdsourcing Consortium, Carracedo Á, Alonso Á and Dopazo J.

    CSVS, a crowdsourcing database of the Spanish population genetic variability.

    NUCLEIC ACIDS RESEARCH . 49(D1): 1130-1137. Nº de citas: 28

    [doi:10.1093/nar/gkaa794]

  • Ferreira CR, Rahman S, Keller M, Zschocke J and ICIMD Advisory Group.

    An international classification of inherited metabolic disorders (ICIMD)

    JOURNAL OF INHERITED METABOLIC DISEASE . 44(1): 164-177. Nº de citas: 87

    [doi:10.1002/jimd.12348]

  • Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P and Morava E.

    International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management

    JOURNAL OF INHERITED METABOLIC DISEASE . 44(1): 148-163. Nº de citas: 29

    [doi:10.1002/jimd.12286]

  • García-García A, Buendia Arellano M, Deyà-Martinez A, Lozano-Blasco J, Serrano M, Van Den Rym A, García-Solis B, Esteve-Solé A, Luo Y, Vlagea A, Solanich X, Fisher MR, Lyons JJ, de Diego RP and Alsina L.

    Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features

    PEDIATRIC ALLERGY AND IMMUNOLOGY . 32(3): 566-575. Nº de citas: 4

    [doi:10.1111/pai.13398]

  • Tristan-Noguero A, Borràs E, Molero M, Wassenberg T, Peters T, Verbeek MM, Willemsen M, Opladen T, Jeltsch K, Pons R, Thony B, Horvath G, Yapici Z, Friedman J, Hyland K, Agosta GE, López-Laso E, Artuch-Iriberri R, Sabidó E and Garcia-Cazorla A.

    Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity

    MOVEMENT DISORDERS . 36(3): 690-703. Nº de citas: 5

    [doi:10.1002/mds.28362]

  • Casas-Alba D, López-Sala L, Pérez M, Marí-Vico R, Bolasell M, Martinez-Monseny T, Muchart-Lopez J, Fernández-Fernández JM, Martorell-Sampol L and Serrano M.

    Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 185(1): 256-260. Nº de citas: 2

    [doi:10.1002/ajmg.a.61939]

  • Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, LUIS GONZÁLEZ GUTIÉRREZ-SOLANA, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch-Iriberri R, Macaya A and Pérez-Dueñas B.

    Delineating the neurological phenotype in children with defects in theECHS1orHIBCHgene

    JOURNAL OF INHERITED METABOLIC DISEASE . 44(2): 401-414. Nº de citas: 24

    [doi:10.1002/jimd.12288]

  • Marin Soria, Lose Luis, Lopez Galera, Rosa Ma, Argudo Ramirez, Ana, Gonzalez de Aledo, Jose Manuel, Pajares Garcia, Sonia, Sastre, Aleix Navarro, Hernandez Perez, Jose Ma, Ribes Rubio, Antonia, Gort Mas, Laura, Garcia Villoria, Judit, Gartner Tizano, Silvia, Rovira Amigo, Sandra, Asensio de la Cruz, Oscar, Garcia Gonzalez, Miguel, Cols M, Costa-Colomer J, Badenas Orquin, Celia, Fernandez, Diego Yeste, Campos Martorell, Ariadna, Clemente Leon, Maria, Mogas Vinals, Eduardo, Ferrer Costa, Roser, Giralt Arnaiz, Marina, Campistol Plana, Jaume, Garcia Cazorla, Angeles, Beneitez Pastor, David, Ortuno Cabrero, Ana, Blanco Alvarez, Adoracion, TazIon Vega, Barbara, Roue, Gael, Velasco Puyo, Pablo, Murciano Carrillo, Thais, Murillo Sanjuan, Laura, de Heredia Rubio, Cristina Diaz, Manu Pereira, Ma del Mar, Vives Corrons, Josep Lluis, Arranz Amo, Jose Antonio, Carnicer Caceres, Clara, del Toro Riera, Mireia, Ormazabal Herrero, Aida, Artuch-Iriberri R, Garcia-Volpe, Camila, Mercedes de los Santos, Mariela, Sierra March, Cristina, Ruiz Hernandez, Carlos Jose, Meavilla Olivas, Silvia Ma, Martin Nalda, Andrea, Riviere, Jacques G., Parra Martinez, Alba, Soler Palacin, Pere, Martinez Gallo, Monica, Colobran, Roger, Casals Senent, Teresa, Armelles Sebastia, Merce, Vidal Benede, Ma Jose, Checa, Mireira Jane, Fernandez Bordon, Rosa Ma, Asso Ministral, Laia, Prats Viedma, Blanca and Cabezas Pena, Carmen.

    50 years of the Neonatal Screening Program in Catalonia

    Revista espanola de salud publica . 94: .

  • Marín Soria JL, López Galera RM, Argudo Ramírez A, González de Aledo JM, Pajares García S, Navarro Sastre A, Hernandez Pérez JM, Ribes Rubio A, Gort Mas L, García Villoria J, Gartner Tizano S, Rovira Amigo S, Asensio de la Cruz O, García González M, Cols M, Costa-Colomer J, Bádenas Orquin C, Yeste Fernández D, Campos Martorell A, Clemente León M, Mogas Viñals E, Ferrer Costa R, Giralt Arnaiz M, Campistol-Plana J, Garcia-Cazorla A, Beneitez Pastor D, Ortuño Cabrero A, Blanco Álvarez A, Tazón Vega B, Roué G, Velasco Puyo P, Murciano Carrillo T, Murillo Sanjuan L, Díaz de Heredia Rubio C, Mañú Pereira MDM, Vives Corrons JL, Arranz Amo JA, Carnicer Cáceres C, Del Toro Riera M, Ormazábal Herrero A, Artuch-Iriberri R, García-Volpe C, de los Santos MM, Sierra-March C, Ruiz-Hernández CJ, Meavilla-Olivas SM, Martín Nalda A, Rivière JG, Parra Martínez A, Soler Palacín P, Martínez Gallo M, Colobran R, Casals Senent T, Armelles Sebastia M, Vidal Benede MJ, Jané Checa M, Fernández Bordón RM, Asso Ministral L, Prats Viedma B and Cabezas Peña C.

    [50 years of the Neonatal Screening Program in Catalonia.]

    Revista espanola de salud publica . 94: 1-15.