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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.
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
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.
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
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.
Tort F, Ugarteburu O, Texidó L, Gea-Sorlí S, García-Villoria J, Ferrer-Cortès X, Arias Á, Matalonga L, Gort L, Ferrer I, Guitart-Mampel M, Garrabou G, Vaz FM, Pristoupilova A, Rodríguez MIE, Beltran S, Cardellach F, Wanders RJ, Fillat C, García-Silva MT, Ribes A. Tort F, et al. Hum Mutat. 2019 Oct;40(10):1700-1712. doi: 10.1002/humu.23779. Epub 2019 May 17. Hum Mutat. 2019. PMID: 31058414
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, Del Toro M, 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. Orphanet J Rare Dis. 2021 Apr 30;16(1):195. doi: 10.1186/s13023-021-01784-7. Orphanet J Rare Dis. 2021. PMID: 33931066 Free PMC article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
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.
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
80 results