Metabolómica y genética bioquímica

Epifani F, Pujol Serra SM, Llorens M, Balsells S, Nolasco-Tovar GA, Bolasell M, SERGIO AGUILERA ALBESA, Cancho Candela R, Cuevas Cervera JL, García Sánchez V, Garcia O, Miranda-Herrero MC, Moreno-Lozano PJ, Robles B, Roldán Aparicio S, Velázquez Fragua R and Serrano M.

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study

SCIENTIFIC REPORTS 2023. 13(1): 22783-22783. Nº de citas: 2

[doi:10.1038/s41598-023-49518-y]

Mayayo-Vallverdú C, Prat E, Vecino-Pérez M, González L, Gràcia-Garcia S, San Miguel L, Lopera N, Arias A, Artuch-Iriberri R, López de Heredia M, Torrecilla C, Rousaud-Barón F, Angerri O, Errasti-Murugarren E and Nunes V.

Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 2023. 24(24): . Nº de citas: 1

[doi:10.3390/ijms242417140]

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 2023. 46(6): 1029-1042.

[doi:10.1002/jimd.12681]

Campistol-Plana J.

Inborn errors of metabolism. Advances in diagnosis and therapeutic

MEDICINA-BUENOS AIRES 2023. 83: 3-8.

Roldan-Molina M, Nolasco-Tovar GA, Armengol L, Frías M, Morell M, García-Aragonés M, Epifani F, Muchart-Lopez J, Ramírez-Almaraz ML, Martorell-Sampol L, Hernando-Davalillo C, Urreizti R and Serrano M.

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 2023. 24(18): . Nº de citas: 1

[doi:10.3390/ijms241813699]

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 2023. 46(5): 982-991. Nº de citas: 10

[doi:10.1002/jimd.12639]

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 2023. 12(8): . Nº de citas: 3

[doi:10.3390/antiox12081639]

Garcia-Arenas D, Barrau-Martinez B, Gonzalez-Rodriguez A, Llorach R, Campistol-Plana J, Garcia-Cazorla A, Ormazabal-Herrero A and Urpi-Sarda M.

Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods

Nutrients 2023. 15(15): . Nº de citas: 3

[doi:10.3390/nu15153475]

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 2023. 64: 102801-102801. Nº de citas: 7

[doi:10.1016/j.redox.2023.102801]

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 2023. 1226: 123787-123787. Nº de citas: 2

[doi:10.1016/j.jchromb.2023.123787]