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Page 1
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL. Coughlin CR 2nd, et al. Among authors: bravo alonso i. Genet Med. 2017 Jan;19(1):104-111. doi: 10.1038/gim.2016.74. Epub 2016 Jun 30. Genet Med. 2017. PMID: 27362913 Free article.
Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature.
Stanescu S, Bravo-Alonso I, Belanger-Quintana A, Pérez B, Medina-Diaz M, Ruiz-Sala P, Flores NP, Buenache R, Arrieta F, Rodríguez-Pombo P. Stanescu S, et al. Among authors: bravo alonso i. Orphanet J Rare Dis. 2022 Jun 21;17(1):243. doi: 10.1186/s13023-022-02389-4. Orphanet J Rare Dis. 2022. PMID: 35729663 Free PMC article. Review.
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy.
Bravo-Alonso I, Morin M, Arribas-Carreira L, Álvarez M, Pedrón-Giner C, Soletto L, Santolaria C, Ramón-Maiques S, Ugarte M, Rodríguez-Pombo P, Ariño J, Moreno-Pelayo MÁ, Pérez B. Bravo-Alonso I, et al. J Inherit Metab Dis. 2023 Mar;46(2):261-272. doi: 10.1002/jimd.12584. Epub 2023 Jan 2. J Inherit Metab Dis. 2023. PMID: 36564894
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.
Bravo-Alonso I, Navarrete R, Vega AI, Ruíz-Sala P, García Silva MT, Martín-Hernández E, Quijada-Fraile P, Belanger-Quintana A, Stanescu S, Bueno M, Vitoria I, Toledo L, Couce ML, García-Jiménez I, Ramos-Ruiz R, Martín MÁ, Desviat LR, Ugarte M, Pérez-Cerdá C, Merinero B, Pérez B, Rodríguez-Pombo P. Bravo-Alonso I, et al. J Clin Med. 2019 Nov 1;8(11):1811. doi: 10.3390/jcm8111811. J Clin Med. 2019. PMID: 31683770 Free PMC article.
Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene.
Arribas-Carreira L, Bravo-Alonso I, López-Márquez A, Alonso-Barroso E, Briso-Montiano Á, Arroyo I, Ugarte M, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P, Richard E. Arribas-Carreira L, et al. Among authors: bravo alonso i. Stem Cell Res. 2019 Aug;39:101503. doi: 10.1016/j.scr.2019.101503. Epub 2019 Jul 16. Stem Cell Res. 2019. PMID: 31349202 Free article.
Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene.
López-Márquez A, Alonso-Barroso E, Cerro-Tello G, Bravo-Alonso I, Arribas-Carreira L, Briso-Montiano Á, Navarrete R, Pérez-Cerdá C, Ugarte M, Pérez B, Desviat LR, Richard E. López-Márquez A, et al. Among authors: bravo alonso i. Stem Cell Res. 2019 Jul;38:101469. doi: 10.1016/j.scr.2019.101469. Epub 2019 May 22. Stem Cell Res. 2019. PMID: 31132581 Free article.
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, García-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JLK, Ugarte M, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P. Bravo-Alonso I, et al. Hum Mutat. 2017 Jun;38(6):678-691. doi: 10.1002/humu.23208. Epub 2017 Mar 20. Hum Mutat. 2017. PMID: 28244183
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JLK. Coughlin CR, et al. Among authors: bravo alonso i. Genet Med. 2018 Sep;20(9):1098. doi: 10.1038/gim.2017.232. Genet Med. 2018. PMID: 29300369 Free article.
Corrigendum to "Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene" [Stem Cell Research, Volume 38, July 2019, 101469].
López-Márquez A, Alonso-Barroso E, Cerro-Tello G, Bravo-Alonso I, Arribas-Carreira L, Briso-Montiano Á, Navarrete R, Pérez-Cerdá C, Ugarte M, Pérez B, Desviat LR, Richard E. López-Márquez A, et al. Among authors: bravo alonso i. Stem Cell Res. 2019 Aug;39:101513. doi: 10.1016/j.scr.2019.101513. Epub 2019 Jul 28. Stem Cell Res. 2019. PMID: 31365893 Free article. No abstract available.