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Page 1
Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022-Epidemiology and Impact on Clinical Events.
González de Aledo-Castillo JM, Argudo-Ramírez A, Beneitez-Pastor D, Collado-Gimbert A, Almazán Castro F, Roig-Bosch S, Andrés-Masó A, Ruiz-Llobet A, Pedrals-Portabella G, Medina-Santamaria D, Nadal-Rey G, Espigares-Salvia M, Coll-Sibina MT, Algar-Serrano M, Torrent-Español M, Leoz-Allegretti P, Rodríguez-Pebé A, García-Bernal M, Solà-Segura E, García-Gallego A, Prats-Viedma B, López-Galera RM, Paredes-Fuentes AJ, Pajares García S, Delgado-López G, Blanco-Álvarez A, Tazón-Vega B, Díaz de Heredia C, Mañú-Pereira MDM, Marín-Soria JL, García-Villoria J, Velasco-Puyó P, On Behalf Of The Sickle Cell Disease Newborn Screening Group Of Catalonia. González de Aledo-Castillo JM, et al. Among authors: garcia villoria j. Int J Neonatal Screen. 2024 Oct 3;10(4):69. doi: 10.3390/ijns10040069. Int J Neonatal Screen. 2024. PMID: 39449357 Free PMC article.
Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model.
Mateu-Bosch A, Segur-Bailach E, Muñoz-Moreno E, Barallobre MJ, Arbonés ML, Gea-Sorlí S, Tort F, Ribes A, García-Villoria J, Fillat C. Mateu-Bosch A, et al. Among authors: garcia villoria j. Mol Ther Methods Clin Dev. 2024 Jun 4;32(3):101276. doi: 10.1016/j.omtm.2024.101276. eCollection 2024 Sep 12. Mol Ther Methods Clin Dev. 2024. PMID: 38983872 Free PMC article.
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
Morales-Romero B, Muñoz-Pujol G, Artuch R, García-Cazorla A, O'Callaghan M, Sykut-Cegielska J, Campistol J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J, Tort F. Morales-Romero B, et al. Among authors: garcia villoria j. Mol Genet Metab. 2024 Jul;142(3):108511. doi: 10.1016/j.ymgme.2024.108511. Epub 2024 Jun 6. Mol Genet Metab. 2024. PMID: 38878498
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.
Oliva C, Arias A, Ruiz-Sala P, Garcia-Villoria J, Carling R, Bierau J, Ruijter GJG, Casado M, Ormazabal A, Artuch R. Oliva C, et al. Among authors: garcia villoria j. Clin Chem Lab Med. 2024 Mar 11;62(10):1991-2000. doi: 10.1515/cclm-2023-1291. Print 2024 Sep 25. Clin Chem Lab Med. 2024. PMID: 38456798
Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders.
Morales-Romero B, González de Aledo-Castillo JM, Fernández Sierra C, Martínez Carreira C, Zaragoza Bonet C, Fernández Bonifacio R, Caro Miró MA, Argudo-Ramírez A, López Galera RM, García-Villoria J. Morales-Romero B, et al. Among authors: garcia villoria j. J Lipid Res. 2024 Mar;65(3):100516. doi: 10.1016/j.jlr.2024.100516. Epub 2024 Feb 4. J Lipid Res. 2024. PMID: 38320654 Free PMC article.
Liver-targeted nanoparticles delivering nitric oxide reduce portal hypertension in cirrhotic rats.
Perramón M, Navalón-López M, Fernández-Varo G, Moreno-Lanceta A, García-Pérez R, Faneca J, López-Moya M, Fornaguera C, García-Villoria J, Morales-Ruiz M, Melgar-Lesmes P, Borrós S, Jiménez W. Perramón M, et al. Among authors: garcia villoria j. Biomed Pharmacother. 2024 Feb;171:116143. doi: 10.1016/j.biopha.2024.116143. Epub 2024 Jan 13. Biomed Pharmacother. 2024. PMID: 38219387 Free article.
Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report.
Pané A, Carrasco-Serrano M, Milad C, Leyes P, Moreno-Lozano PJ, Ventura R, Milisenda JC, García-García FJ, Garrabou G, García-Villoria J, López-Galera RM, Ribes A, Grau-Junyent JM, Forga-Visa MT, Montserrat-Carbonell C, On Behalf Of Pku Cat Consortium. Pané A, et al. Among authors: garcia villoria j. J Clin Med. 2023 Dec 1;12(23):7452. doi: 10.3390/jcm12237452. J Clin Med. 2023. PMID: 38068509 Free PMC article.
Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement.
Mateu-Bosch A, Segur-Bailach E, García-Villoria J, Gea-Sorlí S, Ruiz I, Del Rey J, Camps J, Guitart-Mampel M, Garrabou G, Tort F, Ribes A, Fillat C. Mateu-Bosch A, et al. Among authors: garcia villoria j. Gene Ther. 2024 Jan;31(1-2):12-18. doi: 10.1038/s41434-023-00428-8. Epub 2023 Nov 20. Gene Ther. 2024. PMID: 37985879 Free article.
Lysinuric Protein Intolerance and Its Nutritional and Multisystemic Challenges in Pregnancy: A Case Report and Literature Review.
Pané A, Milad C, Santana-Domínguez M, Baños N, Borras-Novell C, Espinosa G, Magnano L, Nomdedeu M, Moreno-Lozano PJ, Cofan F, Placeres M, Fernández RM, García-Villoria J, Garrabou G, Vinagre I, Tanner LM, Montserrat-Carbonell C, Forga-Visa MT. Pané A, et al. Among authors: garcia villoria j. J Clin Med. 2023 Oct 8;12(19):6405. doi: 10.3390/jcm12196405. J Clin Med. 2023. PMID: 37835050 Free PMC article. Review.
84 results