Perez-Cerdá C - Search Results

1

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

Lam C, Desviat LR, Perez-Cerdá C, Ugarte M, Barshop BA, Cederbaum S. Lam C, et al. Mol Genet Metab. 2011 Aug;103(4):338-40. doi: 10.1016/j.ymgme.2011.04.007. Epub 2011 Apr 22. Mol Genet Metab. 2011. PMID: 21549625

2

Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.

Sánchez-Alcudia R, Pérez B, Pérez-Cerdá C, Ugarte M, Desviat LR. Sánchez-Alcudia R, et al. Mol Genet Metab. 2011 Feb;102(2):134-8. doi: 10.1016/j.ymgme.2010.10.013. Epub 2010 Nov 5. Mol Genet Metab. 2011. PMID: 21094621

3

Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia.

Bustamante-Aragones A, Pérez-Cerdá C, Pérez B, de Alba MR, Ugarte M, Ramos C. Bustamante-Aragones A, et al. Mol Genet Metab. 2008 Sep-Oct;95(1-2):101-3. doi: 10.1016/j.ymgme.2008.05.006. Epub 2008 Jul 2. Mol Genet Metab. 2008. PMID: 18599334

4

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.

Desviat LR, Sanchez-Alcudia R, Pérez B, Pérez-Cerdá C, Navarrete R, Vijzelaar R, Ugarte M. Desviat LR, et al. Mol Genet Metab. 2009 Apr;96(4):171-6. doi: 10.1016/j.ymgme.2008.12.009. Epub 2009 Jan 20. Mol Genet Metab. 2009. PMID: 19157943

5

Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases.

Pérez B, Nevado J, Lapunzina P, Gallego L, Pérez-Cerdá C, Merinero B, Ugarte M, Desviat LR. Pérez B, et al. Mol Genet Metab. 2012 Feb;105(2):270-1. doi: 10.1016/j.ymgme.2011.10.019. Epub 2011 Nov 7. Mol Genet Metab. 2012. PMID: 22115769 No abstract available.

6

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.

Gallego-Villar L, Pérez-Cerdá C, Pérez B, Abia D, Ugarte M, Richard E, Desviat LR. Gallego-Villar L, et al. J Inherit Metab Dis. 2013 Sep;36(5):731-40. doi: 10.1007/s10545-012-9545-3. Epub 2012 Oct 3. J Inherit Metab Dis. 2013. PMID: 23053474

7

Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia.

Rivera-Barahona A, Fulgencio-Covián A, Pérez-Cerdá C, Ramos R, Barry MA, Ugarte M, Pérez B, Richard E, Desviat LR. Rivera-Barahona A, et al. Sci Rep. 2017 Jul 18;7(1):5727. doi: 10.1038/s41598-017-06420-8. Sci Rep. 2017. PMID: 28720782 Free PMC article.

8

Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.

Rivera-Barahona A, Navarrete R, García-Rodríguez R, Richard E, Ugarte M, Pérez-Cerda C, Pérez B, Gámez A, Desviat LR. Rivera-Barahona A, et al. Mol Genet Metab. 2018 Nov;125(3):266-275. doi: 10.1016/j.ymgme.2018.09.008. Epub 2018 Sep 26. Mol Genet Metab. 2018. PMID: 30274917

9

Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy.

Fulgencio-Covián A, Alonso-Barroso E, Guenzel AJ, Rivera-Barahona A, Ugarte M, Pérez B, Barry MA, Pérez-Cerdá C, Richard E, Desviat LR. Fulgencio-Covián A, et al. Among authors: perez cerda c. Transl Res. 2020 Apr;218:43-56. doi: 10.1016/j.trsl.2019.12.004. Epub 2019 Dec 27. Transl Res. 2020. PMID: 31951825

10

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.

Pérez B, Desviat LR, Rodríguez-Pombo P, Clavero S, Navarrete R, Perez-Cerdá C, Ugarte M. Pérez B, et al. Mol Genet Metab. 2003 Jan;78(1):59-67. doi: 10.1016/s1096-7192(02)00197-x. Mol Genet Metab. 2003. PMID: 12559849

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