Publicacions
-
Muñoz-Pujol G, Ugarteburu O, Segur-Bailach E, Moliner S, Jurado S, Garrabou G, Guitart-Mampel M, García-Villoria J, Artuch-Iriberri R, Fons-Estupina C, Ribes A and Tort F.
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders
JOURNAL OF INHERITED METABOLIC DISEASE . 46(6): 1029-1042. Nº de cites: 1
-
Mariño Z, Molera C, Badenas C, Quintero-Bernabeu J, Torra M, Forns X and Artuch-Iriberri R.
Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease
JOURNAL OF INHERITED METABOLIC DISEASE . 46(5): 982-991. Nº de cites: 15
-
Cantó-Santos J, Valls-Roca L, Tobías E, Oliva-Mussara C, García-García FJ, Guitart-Mampel M, Andújar-Sánchez F, Esteve-Codina A, Martín-Mur B, Padrosa J, Aránega R, Moreno-Lozano PJ, Milisenda JC, Artuch-Iriberri R, Grau-Junyent JM and Garrabou G.
Integrated Multi-Omics Analysis for Inferring Molecular Players in Inclusion Body Myositis
Antioxidants . 12(8): . Nº de cites: 4
-
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. Nº de cites: 13
-
Oliva-Mussara C, Arias A, Ruiz M, Pujol A, Garrabou G, Canto-Santos J, Urreizti R, Castilla-Vallmanya L, Rodriguez H, Jou-Munoz C, Casado-Rio M, Ormazabal-Herrero A and Artuch-Iriberri R.
Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number
JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES . 1226: 123787-123787. Nº de cites: 3
-
Tangeraas T, Ribeiro J, Backe PH, De Oyarzabal-Sanz AL, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, de los Santos MM, Muchart-Lopez J, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal-Herrero A, Stoway SD, Artuch-Iriberri R, Dixon M, Mørkrid L and Garcia-Cazorla A.
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
BRAIN . 146(7): 3003-3013. Nº de cites: 26
-
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. Nº de cites: 7
-
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): . Nº de cites: 9
-
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. Nº de cites: 9
-
Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls, H, Martinez-Cabrera, R, Prat-Planas, A, Rojano, E, Ranea, JAG, Seoane, P, Oliva-Mussara C, Paredes-Fuentes, AJ, Marfany G, Artuch-Iriberri R, Grinberg-Vaisman DR, Rabionet-Janssen R, Balcells S and Urreizti R.
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2
JOURNAL OF MEDICAL GENETICS . 60(4): 406-415. Nº de cites: 6
