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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. doi: 10.1515/cclm-2023-1291. Online ahead of print. 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
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.
Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme.
Pajares-García S, González de Aledo-Castillo JM, Flores-Jiménez JE, Collado T, Pérez J, Paredes-Fuentes AJ, Argudo-Ramírez A, López-Galera RM, Prats B, García-Villoria J. Pajares-García S, et al. Among authors: garcia villoria j. Clin Chem Lab Med. 2023 Oct 6;62(3):493-505. doi: 10.1515/cclm-2023-0216. Print 2024 Feb 26. Clin Chem Lab Med. 2023. PMID: 37794778
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
Muñoz-Pujol G, Ugarteburu O, Segur-Bailach E, Moliner S, Jurado S, Garrabou G, Guitart-Mampel M, García-Villoria J, Artuch R, Fons C, Ribes A, Tort F. Muñoz-Pujol G, et al. Among authors: garcia villoria j. J Inherit Metab Dis. 2023 Nov;46(6):1029-1042. doi: 10.1002/jimd.12681. Epub 2023 Oct 3. J Inherit Metab Dis. 2023. PMID: 37718653
Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Pajares S, Arranz JA, Ormazabal A, Toro MD, García-Cazorla Á, Navarro-Sastre A, López RM, Meavilla SM, de Los Santos MM, García-Volpe C, de Aledo-Castillo JMG, Argudo A, Marín JL, Carnicer C, Artuch R, Tort F, Gort L, Fernández R, García-Villoria J, Ribes A. Pajares S, et al. Among authors: garcia villoria j. Orphanet J Rare Dis. 2023 Jul 13;18(1):188. doi: 10.1186/s13023-023-02793-4. Orphanet J Rare Dis. 2023. PMID: 37443087 Free PMC article. No abstract available.
80 results