Merinero B - Search Results

1

High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.

Bermúdez M, Frank N, Bernal J, Urreizti R, Briceño I, Merinero B, Perez-Cerdá C, Ugarte M, Grinberg D, Balcells S, Kraus JP. Bermúdez M, et al. Among authors: merinero b. Hum Mutat. 2006 Mar;27(3):296. doi: 10.1002/humu.9416. Hum Mutat. 2006. PMID: 16470595

2

Mutational spectrum of maple syrup urine disease in Spain.

Rodríguez-Pombo P, Navarrete R, Merinero B, Gómez-Puertas P, Ugarte M. Rodríguez-Pombo P, et al. Among authors: merinero b. Hum Mutat. 2006 Jul;27(7):715. doi: 10.1002/humu.9428. Hum Mutat. 2006. PMID: 16786533

3

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).

Richard E, Jorge-Finnigan A, Garcia-Villoria J, Merinero B, Desviat LR, Gort L, Briones P, Leal F, Pérez-Cerdá C, Ribes A, Ugarte M, Pérez B; MMACHC Working Group. Richard E, et al. Among authors: merinero b. Hum Mutat. 2009 Nov;30(11):1558-66. doi: 10.1002/humu.21107. Hum Mutat. 2009. PMID: 19760748

4

A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.

Oyarzabal A, Martínez-Pardo M, Merinero B, Navarrete R, Desviat LR, Ugarte M, Rodríguez-Pombo P. Oyarzabal A, et al. Among authors: merinero b. Hum Mutat. 2013 Feb;34(2):355-62. doi: 10.1002/humu.22242. Epub 2012 Dec 12. Hum Mutat. 2013. PMID: 23086801

5

Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.

Jorge-Finnigan A, Aguado C, Sánchez-Alcudia R, Abia D, Richard E, Merinero B, Gámez A, Banerjee R, Desviat LR, Ugarte M, Pérez B. Jorge-Finnigan A, et al. Among authors: merinero b. Hum Mutat. 2010 Sep;31(9):1033-42. doi: 10.1002/humu.21307. Hum Mutat. 2010. PMID: 20556797 Free PMC article.

6

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.

Pérez B, Angaroni C, Sánchez-Alcudia R, Merinero B, Pérez-Cerdá C, Specola N, Rodríguez-Pombo P, Wajner M, de Kremer RD, Cornejo V, Desviat LR, Ugarte M. Pérez B, et al. Among authors: merinero b. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S307-14. doi: 10.1007/s10545-010-9116-4. Epub 2010 Jun 15. J Inherit Metab Dis. 2010. PMID: 20549364

7

Defining the pathogenicity of creatine deficiency syndrome.

Alcaide P, Merinero B, Ruiz-Sala P, Richard E, Navarrete R, Arias A, Ribes A, Artuch R, Campistol J, Ugarte M, Rodríguez-Pombo P. Alcaide P, et al. Among authors: merinero b. Hum Mutat. 2011 Mar;32(3):282-91. doi: 10.1002/humu.21421. Epub 2011 Feb 8. Hum Mutat. 2011. PMID: 21140503

8

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria).

Pérez B, Rincón A, Jorge-Finnigan A, Richard E, Merinero B, Ugarte M, Desviat LR. Pérez B, et al. Among authors: merinero b. Hum Mutat. 2009 Dec;30(12):1676-82. doi: 10.1002/humu.21118. Hum Mutat. 2009. PMID: 19862841

9

Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.

Alcaide P, Krijt J, Ruiz-Sala P, Ješina P, Ugarte M, Kožich V, Merinero B. Alcaide P, et al. Among authors: merinero b. Clin Chim Acta. 2015 Jan 1;438:261-5. doi: 10.1016/j.cca.2014.09.009. Epub 2014 Sep 16. Clin Chim Acta. 2015. PMID: 25218699

10

Investigation of enzyme defects in children with lactic acidosis.

Merinero B, Pérez-Cerda C, Ugarte M. Merinero B, et al. J Inherit Metab Dis. 1992;15(5):696-706. doi: 10.1007/BF01800009. J Inherit Metab Dis. 1992. PMID: 1331606

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