Vega AI - Search Results

1

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B. Vega AI, et al. J Inherit Metab Dis. 2011 Aug;34(4):929-39. doi: 10.1007/s10545-011-9328-2. Epub 2011 May 4. J Inherit Metab Dis. 2011. PMID: 21541725

2

Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease.

Pérez-Cerdá C, Quelhas D, Vega AI, Ecay J, Vilarinho L, Ugarte M. Pérez-Cerdá C, et al. Among authors: vega ai. Clin Chem. 2008 Jan;54(1):93-100. doi: 10.1373/clinchem.2007.093450. Epub 2007 Nov 16. Clin Chem. 2008. PMID: 18024528

3

Congenital disorder of glycosylation Ia: new differentially expressed proteins identified by 2-DE.

Richard E, Vega AI, Pérez B, Roche C, Velázquez R, Ugarte M, Pérez-Cerdá C. Richard E, et al. Among authors: vega ai. Biochem Biophys Res Commun. 2009 Feb 6;379(2):267-71. doi: 10.1016/j.bbrc.2008.12.036. Epub 2008 Dec 25. Biochem Biophys Res Commun. 2009. PMID: 19101518

4

Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.

Vega AI, Pérez-Cerdá C, Desviat LR, Matthijs G, Ugarte M, Pérez B. Vega AI, et al. Hum Mutat. 2009 May;30(5):795-803. doi: 10.1002/humu.20960. Hum Mutat. 2009. PMID: 19235233

5

The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.

Pérez B, Briones P, Quelhas D, Artuch R, Vega AI, Quintana E, Gort L, Ecay MJ, Matthijs G, Ugarte M, Pérez-Cerdá C. Pérez B, et al. Among authors: vega ai. JIMD Rep. 2011;1:117-23. doi: 10.1007/8904_2011_26. Epub 2011 Jun 22. JIMD Rep. 2011. PMID: 23430838 Free PMC article.

6

Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.

Castro M, Carrillo R, García F, Sanz P, Ferrer I, Ruiz-Sala P, Vega AI, Ruíz Desviat L, Pérez B, Pérez-Cerdá C, Merinero B, Ugarte M. Castro M, et al. Among authors: vega ai. Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):233-40. doi: 10.1080/15257770.2013.854381. Nucleosides Nucleotides Nucleic Acids. 2014. PMID: 24940674 Review.

7

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.

Vega AI, Medrano C, Navarrete R, Desviat LR, Merinero B, Rodríguez-Pombo P, Vitoria I, Ugarte M, Pérez-Cerdá C, Pérez B. Vega AI, et al. Genet Med. 2016 Oct;18(10):1037-43. doi: 10.1038/gim.2015.217. Epub 2016 Feb 25. Genet Med. 2016. PMID: 26913919 Free article.

8

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.

Yuste-Checa P, Vega AI, Martín-Higueras C, Medrano C, Gámez A, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B. Yuste-Checa P, et al. Among authors: vega ai. PLoS One. 2017 Jun 29;12(6):e0179456. doi: 10.1371/journal.pone.0179456. eCollection 2017. PLoS One. 2017. PMID: 28662078 Free PMC article.

9

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.

Brasil S, Leal F, Vega A, Navarrete R, Ecay MJ, Desviat LR, Riera C, Padilla N, de la Cruz X, Couce ML, Martin-Hernández E, Morais A, Pedrón C, Peña-Quintana L, Rigoldi M, Specola N, de Almeida IT, Vives I, Yahyaoui R, Rodríguez-Pombo P, Ugarte M, Pérez-Cerda C, Merinero B, Pérez B. Brasil S, et al. Orphanet J Rare Dis. 2018 Jul 24;13(1):125. doi: 10.1186/s13023-018-0862-y. Orphanet J Rare Dis. 2018. PMID: 30041674 Free PMC article.

10

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.

Navarrete R, Leal F, Vega AI, Morais-López A, Garcia-Silva MT, Martín-Hernández E, Quijada-Fraile P, Bergua A, Vives I, García-Jiménez I, Yahyaoui R, Pedrón-Giner C, Belanger-Quintana A, Stanescu S, Cañedo E, García-Campos O, Bueno-Delgado M, Delgado-Pecellín C, Vitoria I, Rausell MD, Balmaseda E, Couce ML, Desviat LR, Merinero B, Rodríguez-Pombo P, Ugarte M, Pérez-Cerdá C, Pérez B. Navarrete R, et al. Among authors: vega ai. Eur J Hum Genet. 2019 Apr;27(4):556-562. doi: 10.1038/s41431-018-0330-0. Epub 2019 Jan 9. Eur J Hum Genet. 2019. PMID: 30626930 Free PMC article.

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