Pérez-Cerdá C - Search Results

1

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.

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

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

4

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

5

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

6

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

7

Propionic acidemia: mutation update and functional and structural effects of the variant alleles.

Desviat LR, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P, Clavero S, Ugarte M. Desviat LR, et al. Mol Genet Metab. 2004 Sep-Oct;83(1-2):28-37. doi: 10.1016/j.ymgme.2004.08.001. Mol Genet Metab. 2004. PMID: 15464417 Review.

8

Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.

Desviat LR, Pérez-Cerdá C, Pérez B, Esparza-Gordillo J, Rodríguez-Pombo P, Peñalva MA, Rodríguez De Córdoba S, Ugarte M. Desviat LR, et al. Mol Genet Metab. 2003 Nov;80(3):315-20. doi: 10.1016/S1096-7192(03)00130-6. Mol Genet Metab. 2003. PMID: 14680978

9

Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.

Muro S, Pérez B, Desviat LR, Rodríguez-Pombo P, Pérez-Cerdá C, Clavero S, Ugarte M. Muro S, et al. Mol Genet Metab. 2001 Dec;74(4):476-83. doi: 10.1006/mgme.2001.3254. Mol Genet Metab. 2001. PMID: 11749052

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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