Publications
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Mayayo-Vallverdú C, López de Heredia M, Prat E, González L, Espino Guarch M, Vilches C, Muñoz L, Asensi MA, Serra C, Llebaria A, Casado-Rio M, Artuch-Iriberri R, Garrabou G, Garcia-Roves PM, Pallardó FV and Nunes V.
The antioxidant L-Ergothioneine prevents cystine lithiasis in the Slc7a9-/- mouse model of cystinuria
REDOX BIOLOGY . 64: 102801-102801. Number of citations: 1
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Vega-Hanna L, Sanz-Cuesta M, Casas-Alba D, Bolasell M, Martorell-Sampol L, Pias-Peleteiro LD, Lucia FA, Martinez-Monseny T and Serrano M.
Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study
Frontiers in pediatrics . 11: 1184529-1184529.
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De Giorgi A, Nardecchia F, Manti F, Campistol-Plana J and Leuzzi V.
Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review
MOLECULAR GENETICS AND METABOLISM . 139(2): 107588-107588.
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Paredes-Fuentes AJ, Oliva-Mussara C, Urreizti R, Yubero-Siles D and Artuch-Iriberri R.
Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up
CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES . 60(4): 270-289. Number of citations: 2
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Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou-Munoz C, Ugarteburu O, Gort L, Yubero-Siles D, Garcia-Cazorla A, O'Callaghan-Gordo M, Campistol-Plana J, Muchart-Lopez J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch-Iriberri R, Ribes A, Urreizti R and Tort F.
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency
BRAIN PATHOLOGY . 33(3): . Number of citations: 2
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Amato, ME, Ricart S, Vicente-Villa MA, Martorell-Sampol L, Armstrong-Moron J, Fernandez-Isern G, Mascaro, JM, Balsells S, Alonso, I, Serrano M and Ortigoza-Escobar JD.
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
clinical case reports . 11(4): . Number of citations: 1
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Cantó-Santos J, Valls-Roca L, Tobías E, García-García FJ, Guitart-Mampel M, Esteve-Codina A, Martín-Mur B, Casado-Rio M, Artuch-Iriberri R, Solsona-Vilarrasa E, Fernandez-Checa JC, García-Ruiz C, Rentero C, Enrich C, Moreno-Lozano PJ, Milisenda JC, Cardellach F, Grau-Junyent JM and Garrabou G.
Unravelling inclusion body myositis using a patient-derived fibroblast model
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE . 14(2): 964-977. Number of citations: 1
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Carreras-Blesa N, Arnaez-Solis J, Valls-Lafon A, Agut-Quijano T, Sierra-March C and Garcia-Alix A.
CSF neopterin and beta-2-microglobulin as inflammation biomarkers in newborns with hypoxic-ischemic encephalopathy
PEDIATRIC RESEARCH . 93(5): 1328-1335. Number of citations: 4
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López-López D, Roldán G, Fernández-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A, Peña-Chilet M and Dopazo J.
A crowdsourcing database for the copy-number variation of the Spanish population.
HUMAN GENOMICS . 17(1): 20-20. Number of citations: 1
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Tristan-Noguero A, Fernández Carasa I, Calatayud Aristoy C, Bermejo-Casadesús C, Marina Pons Espinal, Colini Baldeschi A, Campa L, Artigas F, Bortolozzi A, Domingo-Jiménez R, Ibáñez S, Pineda M, Artuch-Iriberri R, Raya Á, Garcia-Cazorla A and Consiglio A.
iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation
EMBO Molecular Medicine . 15(3): . Number of citations: 2