Ugarte M - 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: ugarte m. 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: ugarte m. Hum Mutat. 2006 Jul;27(7):715. doi: 10.1002/humu.9428. Hum Mutat. 2006. PMID: 16786533

3

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. Among authors: ugarte m. Hum Mutat. 2009 May;30(5):795-803. doi: 10.1002/humu.20960. Hum Mutat. 2009. PMID: 19235233

4

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: ugarte m. Hum Mutat. 2009 Nov;30(11):1558-66. doi: 10.1002/humu.21107. Hum Mutat. 2009. PMID: 19760748

5

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: ugarte m. Hum Mutat. 2013 Feb;34(2):355-62. doi: 10.1002/humu.22242. Epub 2012 Dec 12. Hum Mutat. 2013. PMID: 23086801

6

Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.

Muro S, Rodríguez-Pombo P, Pérez B, Pérez-Cerdá C, Desviat LR, Sperl W, Skladal D, Sass JO, Ugarte M. Muro S, et al. Among authors: ugarte m. Hum Mutat. 1999;14(1):89-90. doi: 10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU18>3.0.CO;2-5. Hum Mutat. 1999. PMID: 10447268

7

New frequent mutation in the PCCB gene in Spanish propionic acidemia patients.

Hoenicka J, Rodríguez-Pombo P, Pérez-Cerdá C, Muro S, Richard E, Ugarte M. Hoenicka J, et al. Among authors: ugarte m. Hum Mutat. 1998;Suppl 1:S234-6. doi: 10.1002/humu.1380110175. Hum Mutat. 1998. PMID: 9452096 No abstract available.

8

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

Yuste-Checa P, Gámez A, Brasil S, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B. Yuste-Checa P, et al. Among authors: ugarte m. Hum Mutat. 2015 Sep;36(9):851-60. doi: 10.1002/humu.22817. Epub 2015 Jul 23. Hum Mutat. 2015. PMID: 26014514 Free article.

9

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.

Yuste-Checa P, Brasil S, Gámez A, Underhaug J, Desviat LR, Ugarte M, Pérez-Cerdá C, Martinez A, Pérez B. Yuste-Checa P, et al. Among authors: ugarte m. Hum Mutat. 2017 Feb;38(2):160-168. doi: 10.1002/humu.23138. Epub 2016 Nov 21. Hum Mutat. 2017. PMID: 27774737

10

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: ugarte m. Hum Mutat. 2010 Sep;31(9):1033-42. doi: 10.1002/humu.21307. Hum Mutat. 2010. PMID: 20556797 Free PMC article.

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