PubMed

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

Pérez B, Rincón A, Jorge-Finnigan A, Richard E, Merinero B, Ugarte M, Desviat LR.

Hum Mutat. 2009 Sep 2. [Epub ahead of print]PMID: 19862841 [PubMed - as supplied by publisher]Related articles

Chronic intraocular copper foreign body and candida: a unique combination.

Ugarte M, Nicol DA, Jones NP, Charles SJ.

Ocul Immunol Inflamm. 2009 Sep-Oct;17(5):356-60.PMID: 19831572 [PubMed - in process]Related articles

Mutation analysis of phenylketonuria patients from Morocco: High prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.

Dahri S, Desviat LR, Pérez B, Leal F, Ugarte M, Chabraoui L.

Clin Biochem. 2009 Sep 26. [Epub ahead of print]PMID: 19786003 [PubMed - as supplied by publisher]Related articles

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.

Hum Mutat. 2009 Nov;30(11):1558-66.PMID: 19760748 [PubMed - in process]Related articles

The Missense p.S231F phenylalanine hydroxylase gene mutation causes complete loss of enzymatic activity in vitro.

Stojiljkovic M, Pérez B, Desviat LR, Aguado C, Ugarte M, Pavlovic S.

Protein J. 2009 Aug;28(6):294-9.PMID: 19629656 [PubMed - in process]Related articles

[Animal models of diabetic retinopathy: how are they helping us?]

Ugarte M.

Arch Soc Esp Oftalmol. 2009 Jun;84(6):277-9. Spanish. No abstract available. PMID: 19568986 [PubMed - in process]Related articlesFree article

Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene.

Quental S, Gusmão A, Rodríguez-Pombo P, Ugarte M, Vilarinho L, Amorim A, Prata MJ.

Ann Hum Genet. 2009 May;73(Pt 3):298-303.PMID: 19456321 [PubMed - indexed for MEDLINE]Related articles

Predictive validity of Perceived Emotional Intelligence on nursing students' self-concept.

Augusto Landa JM, López-Zafra E, Aguilar-Luzón Mdel C, de Ugarte MF.

Nurse Educ Today. 2009 Oct;29(7):801-8. Epub 2009 May 17.PMID: 19447529 [PubMed - in process]Related articles

[Case 3. Congenital bronchial atresia]

Gabilondo A, Ugarte M, Legasa L, Galardi A.

Radiologia. 2009 Jan-Feb;51(1):96; discussion 103-4. Spanish. No abstract available. PMID: 19303489 [PubMed - indexed for MEDLINE]Related articles

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.

Hum Mutat. 2009 May;30(5):795-803.PMID: 19235233 [PubMed - indexed for MEDLINE]Related articles

Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.

Menao S, López-Viñas E, Mir C, Puisac B, Gratacós E, Arnedo M, Carrasco P, Moreno S, Ramos M, Gil MC, Pié A, Ribes A, Pérez-Cerda C, Ugarte M, Clayton PT, Korman SH, Serra D, Asins G, Ramos FJ, Gómez-Puertas P, Hegardt FG, Casals N, Pié J.

Hum Mutat. 2009 Mar;30(3):E520-9.PMID: 19177531 [PubMed - indexed for MEDLINE]Related articles

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.

Mol Genet Metab. 2009 Apr;96(4):171-6. Epub 2009 Jan 20.PMID: 19157943 [PubMed - indexed for MEDLINE]Related articles

[Utility of various non-invasive methods for fibrosis prediction among Basque Country patients with phenotypic hemochromatosis]

Castiella A, Zapata E, Otazua P, Fernández J, Alustiza JM, Ugarte M, Legasa L, Galardi A, Ugalde A, Barredo I, Arriola JA.

Rev Esp Enferm Dig. 2008 Oct;100(10):611-4. Spanish. PMID: 19119785 [PubMed - indexed for MEDLINE]Related articles

Congenital disorder of glycosylation Ia: new differentially expressed proteins identified by 2-DE.

Richard E, Vega AI, Pérez B, Roche C, Velázquez R, Ugarte M, Pérez-Cerdá C.

Biochem Biophys Res Commun. 2009 Feb 6;379(2):267-71. Epub 2008 Dec 25.PMID: 19101518 [PubMed - indexed for MEDLINE]Related articles

The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine.

Steventon GB, Mitchell SC, Pérez B, Desviat LR, Ugarte M.

Mol Genet Metab. 2009 Jan;96(1):27-31. Epub 2008 Nov 25.PMID: 19036622 [PubMed - indexed for MEDLINE]Related articles

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.

Mol Genet Metab. 2008 Sep-Oct;95(1-2):101-3. Epub 2008 Jul 2.PMID: 18599334 [PubMed - indexed for MEDLINE]Related articles

[Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population]

Martínez-Frías ML, Bermejo E, Pérez B, Desviat LR, Castro M, Leal F, Mansilla E, Martínez-Fernández ML, Rodríguez-Pinilla E, Rodríguez L, Ugarte M; Grupo de Trabajo del Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC).

Med Clin (Barc). 2008 Jun 21;131(3):81-8. Spanish. PMID: 18590621 [PubMed - indexed for MEDLINE]Related articles

Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.

Gutiérrez Junquera C, Balmaseda E, Gil E, Martínez A, Sorli M, Cuartero I, Merinero B, Ugarte M.

Eur J Pediatr. 2009 Jan;168(1):103-6. Epub 2008 Apr 12.PMID: 18408953 [PubMed - indexed for MEDLINE]Related articles

Comparison of an interferon-gamma assay with tuberculin skin testing for detection of tuberculosis (TB) infection in patients with rheumatoid arthritis in a TB-endemic population.

Ponce de Leon D, Acevedo-Vasquez E, Alvizuri S, Gutierrez C, Cucho M, Alfaro J, Perich R, Sanchez-Torres A, Pastor C, Sanchez-Schwartz C, Medina M, Gamboa R, Ugarte M.

J Rheumatol. 2008 May;35(5):776-81. Epub 2008 Apr 1.PMID: 18398944 [PubMed - indexed for MEDLINE]Related articles

Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease.

Pérez-Cerdá C, Quelhas D, Vega AI, Ecay J, Vilarinho L, Ugarte M.

Clin Chem. 2008 Jan;54(1):93-100. Epub 2007 Nov 16.PMID: 18024528 [PubMed - indexed for MEDLINE]Related articlesFree article

Separation and identification of plasma short-chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias.

Ferrer I, Ruiz-Sala P, Vicente Y, Merinero B, Pérez-Cerdá C, Ugarte M.

J Chromatogr B Analyt Technol Biomed Life Sci. 2007 Dec 1;860(1):121-6. Epub 2007 Oct 22.PMID: 17988960 [PubMed - indexed for MEDLINE]Related articles

Propionic and Methylmalonic Acidemia: Antisense Therapeutics for Intronic Variations Causing Aberrantly Spliced Messenger RNA.

Ugarte M, Aguado C, Desviat LR, Sanchez-Alcudia R, Rincon A, Perez B.

Am J Hum Genet. 2007 Oct 26;81(6). [Epub ahead of print]PMID: 17966092 [PubMed - as supplied by publisher]Related articles

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

Merinero B, Pérez B, Pérez-Cerdá C, Rincón A, Desviat LR, Martínez MA, Sala PR, García MJ, Aldamiz-Echevarría L, Campos J, Cornejo V, Del Toro M, Mahfoud A, Martínez-Pardo M, Parini R, Pedrón C, Peña-Quintana L, Pérez M, Pourfarzam M, Ugarte M.

J Inherit Metab Dis. 2008 Feb;31(1):55-66. Epub 2007 Oct 22.PMID: 17957493 [PubMed - indexed for MEDLINE]Related articles

Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway.

Richard E, Alvarez-Barrientos A, Pérez B, Desviat LR, Ugarte M.

J Pathol. 2007 Dec;213(4):453-61.PMID: 17948227 [PubMed - indexed for MEDLINE]Related articles

Hypertensive choroidopathy: recognizing clinically significant end-organ damage.

Ugarte M, Horgan S, Rassam S, Leong T, Kon CH.

Acta Ophthalmol. 2008 Mar;86(2):227-8. Epub 2007 Sep 21. No abstract available. PMID: 17888082 [PubMed - indexed for MEDLINE]Related articles

The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment.

Bóveda MD, Couce ML, Castiñeiras DE, Cocho JA, Pérez B, Ugarte M, Fraga JM.

J Inherit Metab Dis. 2007 Oct;30(5):812. Epub 2007 Jun 21.PMID: 17603758 [PubMed - indexed for MEDLINE]Related articles

Apraxia of lid opening.

Ugarte M, Teimory M.

Br J Ophthalmol. 2007 Jul;91(7):854.PMID: 17576707 [PubMed - indexed for MEDLINE]Related articles

BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor.

Aguado C, Pérez B, García MJ, Bélanger-Quintana A, Martínez-Pardo M, Ugarte M, Desviat LR.

Clin Chim Acta. 2007 May 1;380(1-2):8-12.PMID: 17408607 [PubMed - indexed for MEDLINE]Related articles

Obesity is independently associated with impaired quality of life in patients with rheumatoid arthritis.

García-Poma A, Segami MI, Mora CS, Ugarte MF, Terrazas HN, Rhor EA, García E, Ramos MP, Alva M, Castañeda I, Chung CP.

Clin Rheumatol. 2007 Nov;26(11):1831-5. Epub 2007 Mar 6.PMID: 17340047 [PubMed - indexed for MEDLINE]Related articles

A taxometric analysis of schizophrenia symptoms.

Cuesta MJ, Ugarte MD, Goicoa T, Eraso S, Peralta V.

Psychiatry Res. 2007 Apr 15;150(3):245-53. Epub 2007 Feb 21.PMID: 17316823 [PubMed - indexed for MEDLINE]Related articles

Intraoperative floppy-iris syndrome, alpha1-adrenergic antagonists, and chronic intake of mianserin: is there an association?

Ugarte M, Leong T, Rassam S, Kon CH.

J Cataract Refract Surg. 2007 Jan;33(1):170. No abstract available. PMID: 17189819 [PubMed - indexed for MEDLINE]Related articles

Nonstarter lactobacilli isolated from soft and semihard Argentinean cheeses: genetic characterization and resistance to biological barriers.

Ugarte MB, Guglielmotti D, Giraffa G, Reinheimer J, Hynes E.

J Food Prot. 2006 Dec;69(12):2983-91.PMID: 17186668 [PubMed - indexed for MEDLINE]Related articles

Spontaneous wound dehiscence after removal of single continuous penetrating keratoplasty suture: conservative management.

Ugarte M, Falcon MG.

Cornea. 2006 Dec;25(10):1260-1.PMID: 17172915 [PubMed - indexed for MEDLINE]Related articles

[Congenital disorders of glycosylation. Their diagnosis and treatment]

Pérez-Cerdá C, Ugarte M.

Rev Neurol. 2006 Oct 10;43 Suppl 1:S145-56. Review. Spanish. PMID: 17061182 [PubMed - indexed for MEDLINE]Related articlesFree article

New splicing mutations in propionic acidemia.

Desviat LR, Clavero S, Perez-Cerdá C, Navarrete R, Ugarte M, Perez B.

J Hum Genet. 2006;51(11):992-7. Epub 2006 Oct 19.PMID: 17051315 [PubMed - indexed for MEDLINE]Related articles

Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.

Merinero B, Pérez-Cerdá C, Ruiz Sala P, Ferrer I, García MJ, Martínez Pardo M, Belanger-Quintana A, de la Mota JL, Martin-Hernández E, Vianey-Saban C, Bischoff C, Gregersen N, Ugarte M.

J Inherit Metab Dis. 2006 Oct;29(5):685. Epub 2006 Aug 12.PMID: 16906473 [PubMed - indexed for MEDLINE]Related articles

Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis.

Desviat LR, Pérez B, Ugarte M.

Clin Chim Acta. 2006 Nov;373(1-2):164-7. Epub 2006 May 12.PMID: 16875683 [PubMed - indexed for MEDLINE]Related articles

Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis.

Richard E, Monteoliva L, Juarez S, Pérez B, Desviat LR, Ugarte M, Albar JP.

J Proteome Res. 2006 Jul;5(7):1602-10.PMID: 16823967 [PubMed - indexed for MEDLINE]Related articles

Mutational spectrum of maple syrup urine disease in Spain.

Rodríguez-Pombo P, Navarrete R, Merinero B, Gómez-Puertas P, Ugarte M.

Hum Mutat. 2006 Jul;27(7):715.PMID: 16786533 [PubMed - indexed for MEDLINE]Related articles

An experimental study of the elastic properties of the human Bruch's membrane-choroid complex: relevance to ageing.

Ugarte M, Hussain AA, Marshall J.

Br J Ophthalmol. 2006 May;90(5):621-6.PMID: 16622094 [PubMed - indexed for MEDLINE]Related articlesFree article

Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?

Martínez-Frías ML, Pérez B, Desviat LR, Castro M, Leal F, Rodríguez L, Mansilla E, Martínez-Fernández ML, Bermejo E, Rodríguez-Pinilla E, Prieto D, Ugarte M; ECEMC Working Group.

Am J Med Genet A. 2006 May 1;140(9):987-97.PMID: 16575899 [PubMed - indexed for MEDLINE]Related articles

Horizontal and vertical micropsia following macula-off rhegmatogenous retinal-detachment surgical repair.

Ugarte M, Williamson TH.

Graefes Arch Clin Exp Ophthalmol. 2006 Nov;244(11):1545-8. Epub 2006 Mar 17.PMID: 16544113 [PubMed - indexed for MEDLINE]Related articles

Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells.

Aguado C, Pérez B, Ugarte M, Desviat LR.

FEBS Lett. 2006 Mar 20;580(7):1697-701. Epub 2006 Feb 17.PMID: 16504182 [PubMed - indexed for MEDLINE]Related articles

Modelling risks in disease mapping.

Ugarte MD, Ibáñez B, Militino AF.

Stat Methods Med Res. 2006 Feb;15(1):21-35.PMID: 16477946 [PubMed - indexed for MEDLINE]Related articles

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.

Hum Mutat. 2006 Mar;27(3):296.PMID: 16470595 [PubMed - indexed for MEDLINE]Related articles

Retinal pigment epithelium (RPE) pigmentation and thickening in the central macula after macular edema resolution in central retinal vein occlusion (CRVO).

Ugarte M, Williamson TH.

Retina. 2006 Jan;26(1):121; author reply 121-2. No abstract available. PMID: 16395157 [PubMed - indexed for MEDLINE]Related articles

Emerging risk factors and early atherosclerosis indices in subjects with impaired glucose tolerance.

Schaan BD, Portal VL, de Ugarte MT, Dias AA, Hatem DM.

Diabetes Metab. 2005 Dec;31(6):581-7.PMID: 16357807 [PubMed - indexed for MEDLINE]Related articlesFree article

Aniseikonia associated with epiretinal membranes.

Ugarte M, Williamson TH.

Br J Ophthalmol. 2005 Dec;89(12):1576-80.PMID: 16299133 [PubMed - indexed for MEDLINE]Related articlesFree article

Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin.

Bélanger-Quintana A, García MJ, Castro M, Desviat LR, Pérez B, Mejía B, Ugarte M, Martínez-Pardo M.

Mol Genet Metab. 2005 Dec;86 Suppl 1:S61-6. Epub 2005 Sep 13.PMID: 16165389 [PubMed - indexed for MEDLINE]Related articles

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.

Perez-Cerda C, García-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, García-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M, Ribes A.

Pediatr Res. 2005 Sep;58(3):488-91. Erratum in: Pediatr Res. 2006 Jan;59(1):162. Perez-Cerda, Celia [added]; Ribes, Antonia [added]. PMID: 16148061 [PubMed - indexed for MEDLINE]Related articles