Urreizti R - 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: urreizti r. Hum Mutat. 2006 Mar;27(3):296. doi: 10.1002/humu.9416. Hum Mutat. 2006. PMID: 16470595

2

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.

Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou C, Ugarteburu O, Gort L, Yubero D, García-Cazorla A, O'Callaghan M, Campistol J, Muchart J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch R, Ribes A, Urreizti R, Tort F. Muñoz-Pujol G, et al. Among authors: urreizti r. Brain Pathol. 2023 May;33(3):e13134. doi: 10.1111/bpa.13134. Epub 2022 Nov 30. Brain Pathol. 2023. PMID: 36450274 Free PMC article.

3

Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number.

Oliva C, Arias A, Ruiz M, Pujol A, Garrabou G, Canto-Santos J, Urreizti R, Castilla-Vallmanya L, Rodriguez-Gonzalez H, Jou C, Casado M, Ormazabal A, Artuch R. Oliva C, et al. Among authors: urreizti r. J Chromatogr B Analyt Technol Biomed Life Sci. 2023 Jul 15;1226:123787. doi: 10.1016/j.jchromb.2023.123787. Epub 2023 Jun 10. J Chromatogr B Analyt Technol Biomed Life Sci. 2023. PMID: 37327517

4

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.

Roldán M, Nolasco GA, Armengol L, Frías M, Morell M, García-Aragonés M, Epifani F, Muchart J, Ramírez-Almaraz ML, Martorell L, Hernando-Davalillo C, Urreizti R, Serrano M. Roldán M, et al. Among authors: urreizti r. Int J Mol Sci. 2023 Sep 5;24(18):13699. doi: 10.3390/ijms241813699. Int J Mol Sci. 2023. PMID: 37762002 Free PMC article.

5

Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.

Urreizti R, Balcells S, Rodés M, Vilarinho L, Baldellou A, Couce ML, Muñoz C, Campistol J, Pintó X, Vilaseca MA, Grinberg D. Urreizti R, et al. Hum Mutat. 2003 Jul;22(1):103. doi: 10.1002/humu.9153. Hum Mutat. 2003. PMID: 12815602

6

Two successful pregnancies in pyridoxine-nonresponsive homocystinuria.

Vilaseca MA, Cuartero ML, Martinez de Salinas M, Lambruschini N, Pintó X, Urreizti R, Balcells S, Grinberg D. Vilaseca MA, et al. Among authors: urreizti r. J Inherit Metab Dis. 2004;27(6):775-7. doi: 10.1023/b:boli.0000045840.18383.25. J Inherit Metab Dis. 2004. PMID: 15617186

7

Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies.

Also-Rallo E, Lopez-Quesada E, Urreizti R, Vilaseca MA, Lailla JM, Balcells S, Grinberg D. Also-Rallo E, et al. Among authors: urreizti r. Eur J Obstet Gynecol Reprod Biol. 2005 May 1;120(1):45-52. doi: 10.1016/j.ejogrb.2004.08.008. Eur J Obstet Gynecol Reprod Biol. 2005. PMID: 15866085

8

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.

Urreizti R, Asteggiano C, Cozar M, Frank N, Vilaseca MA, Grinberg D, Balcells S. Urreizti R, et al. Hum Mutat. 2006 Feb;27(2):211. doi: 10.1002/humu.9395. Hum Mutat. 2006. PMID: 16429402

9

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, Couce ML, Rodés M, Vilaseca MA, Balcells S, Grinberg D. Urreizti R, et al. J Hum Genet. 2006;51(4):305-313. doi: 10.1007/s10038-006-0362-0. Epub 2006 Feb 15. J Hum Genet. 2006. PMID: 16479318

10

A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study.

Urreizti R, Asteggiano C, Vilaseca MA, Corbella E, Pintó X, Grinberg D, Balcells S. Urreizti R, et al. Clin Biochem. 2007 Aug;40(12):864-8. doi: 10.1016/j.clinbiochem.2007.04.008. Epub 2007 Apr 27. Clin Biochem. 2007. PMID: 17553479

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