Publicacions
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Evers RAF, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Bosch AM, Burlina A, Campistol-Plana J, Coskun T, Feillet F, Gizewska M, Huijbregts SCJ, Kearney S, Langeveld M, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz FK, MacDonald A and van Spronsen FJ.
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries.
MOLECULAR GENETICS AND METABOLISM . 132(4): 215-219. Nº de cites: 1
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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 cites: 5
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Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong-Moron J, Renieri A and Mari F.
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
CLINICAL GENETICS . 99(3): 462-474. Nº de cites: 12
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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 cites: 8
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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 the ECHS1 or HIBCH gene
JOURNAL OF INHERITED METABOLIC DISEASE . 44(2): 401-414. Nº de cites: 32
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Natera-de Benito D, Ortez-Gonzalez CI, Jou-Munoz C, Jimenez-Mallebrera C, Codina-Bergadà A, Carrera-García L, Exposito-Escudero JM, César-Díaz S, Martorell-Sampol L, Gallano P, Gonzalez-Quereda L, Cuadras-Palleja D, Colomer J, Yubero-Siles D, Palau F and Nascimento-Osorio A.
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort
PEDIATRIC NEUROLOGY . 115: 50-65. Nº de cites: 12
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Castiglioni C, Feillet F, Barnerias C, Wiedemann A, Muchart-Lopez J, Cortes F, Hernando-Davalillo C, Montero-Sanchez R, Dupré T, Bruneel A, Seta N, Vuillaumier-Barrot S and Serrano M.
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
HUMAN MUTATION . 42(2): 142-149. Nº de cites: 9
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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 cites: 27
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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 cites: 37
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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 cites: 169