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Page 1
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Hum Mol Genet. 2023 Mar 6;32(6):917-933. doi: 10.1093/hmg/ddac246.
Hum Mol Genet. 2023.
PMID: 36190515
Free PMC article.
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. Among authors: arribas carreira l.
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
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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. Among authors: arribas carreira l.
Hum Mutat. 2017 Jun;38(6):678-691. doi: 10.1002/humu.23208. Epub 2017 Mar 20.
Hum Mutat. 2017.
PMID: 28244183
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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.
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.
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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: arribas carreira l.
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.
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Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.
Arribas-Carreira L, Castro M, García F, Navarrete R, Bravo-Alonso I, Zafra F, Ugarte M, Richard E, Pérez B, Rodríguez-Pombo P.
Arribas-Carreira L, et al.
Int J Mol Sci. 2024 Feb 28;25(5):2814. doi: 10.3390/ijms25052814.
Int J Mol Sci. 2024.
PMID: 38474060
Free PMC article.
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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: arribas carreira l.
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.
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