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 |
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RESEARCH AND DIAGNOSIS OF INHERITED METABOLIC DISEASES
|
|
Publications 2014
|
DOCUMENT |
F.I. |
CUARTILE |
|
Vitoria, I.; Rausell, D.; González, I.; Pérez-Cerdá, C.; Dalmau, J. Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity. ANALES DE PEDIATRÍA. 2014; 80(3): 184-186. Artículo. |
0,833 |
Q4 |
|
Gallego-Villar, L.; Pérez, B.; Ugarte, M.; Desviat, L. R.; Richard, E. Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2014; 452(3): 457-461. Artículo. |
2,297 |
Q3 |
Pérez-Carro, R.; Sánchez-Alcudia, R.; Pérez, B.; Navarrete, R.; Pérez-
Cerdá, C.; Ugarte, M.; Desviat, L. R. Functional analysis and in vitro
correction of splicing FAH mutations causing tyrosinemia type I. CLINICAL GENETICS. 2014; 86(2): 167-171. Artículo. |
3,931 |
Q2 |
|
Trujillano, D.; Pérez, B.; González, J.; Tornador, C.; Navarrete, R.; Escaramis, G.; Ossowski, S.; Armengol, L.; Cornejo, V.; Desviat, L. R.; Ugarte, M.; Estivill, X. Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using highthroughput targeted sequencing. EUROPEAN JOURNAL OF HUMAN GENETICS. 2014; 22(4): 528-534. Artículo. |
4,349 |
Q1 |
García-Cazorla, A.; Oyarzabal, A.; Fort, J.; Robles, C.; Castejón, E.;
Ruiz-Sala, P.; Bodoy, S.; Merinero, B.; López-Sala, A.; Dopazo, J.; Nunes, V.; Ugarte, M.; Artuch, R.; Palacín, M.; Rodríguez-Pombo, P. Two novel mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. HUMAN MUTATION. 2014; 35(4): 470-477. Artículo. |
5,144 |
Q1 |
Ferrer-López, I.; Ruiz-Sala, P.; Merinero, B.; Pérez-Cerdá, C.; Ugarte,
M. Determination of urinary alpha-aminoadipic semialdehyde by LCMS/MS in patients with congenital metabolic diseases. JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES. 2014; 944: 141-143. Artículo. |
2,729 |
Q2 |
Gallego-Villar, L.; Viecelli, H. M.; Pérez, B.; Harding, C. O.; Ugarte, M..; Thony, B.; Desviat, L. R. A sensitive assay system to test antisense
oligonucleotides for splice suppression therapy in the mouse liver.
MOLECULAR THERAPY. NUCLEIC ACIDS. 2014; 3: e193. Artículo. |
4,512 |
Q1 |
|
Castro, M.; Carrillo, R.; García, F.; Sanz, P.; Ferrer, I.; Ruiz-Sala, P.; Vega, A. I.; Desviat, L. R.; Pérez, B.; Pérez-Cerdá, C.; Merinero, B.; Ugarte, M. Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism. NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS. 2014; 33(4-6): 233-240. Artículo. |
1,018 |
Q4 |
|
Ortigoza-Escobar, J. D.; Serrano, M.; Molero, M.; Oyarzabal, A.; Rebollo, M.; Muchart, J.; Artuch, R.; Rodríguez-Pombo, P.; Pérez-Dueñas, B. Thiamine transporter-2 deficiency: outcome and treatment monitoring. ORPHANET JOURNAL OF RARE DISEASES. 2014; 9: 92. Artículo. |
3,958 |
Q1 |
Martín-Hernández, E.; Aldamiz-Echevarría, L.; Castejón-Ponce, E.;
Pedrón-Giner, C.; Couce, M. L.; Serrano-Nieto, J.; Pintos-Morell, G.;
Belanger-Quintana, A.; Martínez-Pardo, M.; García-Silva, M. T.; Quijada-Fraile, P.; Vitoria-Minana, I.; Dalmau, J.; Lama-More, R. A.; Bueno-Delgadi, M. A.; del Toro-Riera, M.; García-Jiménez, I.; Sierra-Corcoles, C.; Ruiz-Pons, M.; Peña-Quintana, L. J.; Vives-Pinera, I.; Morais, A.; Balmaseda-Serrano, E.; Meavilla, S.; Sanjurjo-Crespo, P.; Pérez-Cerdá, C. Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases. ORPHANET JOURNAL OF RARE DISEASES. 2014; 9: 187. Artículo. |
3,958 |
Q1 |
|
Maseri, A. L.; Castilla, C. Y.; Ybancos, J. L. M.; Rodríguez-Pombo, P. Severe pulmonary hypertension: Initial manifestation of a new deficiency of the lipoic acid metabolism. MEDICINA CLÍNICA. 2014; 143(9): 423-424. Carta. |
1,417 |
Q2 |
|
Pérez, B.; Vilageliú, L.; Grinberg, D.; Desviat, L. R. Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery. NUCLEIC ACID THERAPEUTICS. 2014; 24(1): 48-56. Revisión. |
2,929 |
Q2 |
|
Baumgartner, M. R.; Horster, F.; Dionisi-Vici, C.; Haliloglu, G.; Karall, D.; Chapman, K. A.; Huemer, M.; Hochuli, M.; Assoun, M.; Ballhausen, D.; Burlina, A.; Fowler, B.; Grunert, S. C.; Grunewald, S.; Honzik, T.; Merinero, B.; Pérez-Cerdá, C.; Scholl-Burgi, S.; Skovby, F.; Wijburg, F.; MacDonald, A.; Martinelli, D.; Sass, J. O.; Valayannopoulos, V.; Chakrapani, A. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. ORPHANET JOURNAL OF RARE DISEASES. 2014; 9: 130. Revisión. |
3,358 |
Q2 |
Publications 2009 - 2013
|
YEAR
|
NAME
|
I.F.
|
CUARTILE
|
|
2013 |
Lubrano, R.; Bellelli, E.; Gentile, I.; Paoli, S.; Carducci, C.; Carducci,
C.; Santagata, S.; Pérez, B.; Ugarte, M.; Labriola, D.; Elli, M. Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report. AMERICAN JOURNAL OF TRANSPLANTATION. 2013; 13(7): 1918-1922. Artículo. |
6,19 |
D1 |
|
2013 |
Pérez, B.; Gutiérrez-Solana, L. G.; Verdú, A.; Merinero, B.; Yuste-
Checa, P.; Ruiz-Sala, P.; Calvo, R.; Jalan, A.; Marín, L. L.; Campos, O.; Ruiz, M. A.; San Miguel, M.; Vázquez, M.; Castro, M.; Ferrer, I.; Navarrete, R.; Desviat, L. R.; Lapunzina, P.; Ugarte, M.; Pérez-Cerdá, C. Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. EPILEPSIA. 2013; 54(2): 293-248. Artículo. |
4,584 |
Q1 |
|
2013 |
Ortez, C.; Jou, C.; Cortés-Saladelafont, E.; Moreno, J.; Pérez, A.; Ormazabal, A.; Pérez-Cerdá, C.; Pérez, B.; Artuch, R.; Cusi, V.; García-Cazorla, A. Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency. GENE. 2013; 532(2): 302-306. Artículo. |
2,082 |
Q3 |
|
2013 |
Couce, M. L.; Bóveda, M. D.; Fernández-Marmiesse, A.; Mirás, A.; Pérez, B.; Desviat, L. R.; Fraga, J. M. Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. GENE. 2013; 521(1): 100-104. Artículo. |
2,082 |
Q3 |
|
2013 |
Amiñoso, C.; Vallespín, E.; Fernández, L.; Arrabal, L. F.; Desviat, L. R.; Pérez, B.; Santos, F.; Solera, J. Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element. GENE. 2013; 519(1): 169-172. Artículo. |
2,082 |
Q3 |
|
2013 |
Jorge-Finnigan, A.; Brasil, S.; Underhaug, J.; Ruiz-Sala, P.; Amerinero,
B.; Banerjee, R.; Desviat, L. R.; Ugarte, M.; Martínez, A.; Pérez, B. Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type. HUMAN MOLECULAR GENETICS. 2013; 22(18): 3680-3689. Artículo. |
6,677 |
D1 |
|
2013 |
Oyarzabal, A.; Martínez-Pardo, M.; Merinero, B.; Navarrete, R.;
Desviat, L. R.; Ugarte, M.; Rodríguez-Pombo, P. A novel regulatory
defect in the Branched-Chain -Keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease. HUMAN MUTATION. 2013; 34(2): 355-362. Artículo. |
5,05 |
Q1 |
|
2013 |
Parini, R.; Furlan, F.; Brambilla, A.; Codazzi, D.; Vedovati, S.; Corbetta, C.; Fedeli, T.; Merinero, B.; Pérez, B.; Ugarte, M. Severe neonatal metabolic decompensation in methylmalonic acidemia caused by CblD defect. JIMD REPORTS. 2013; 11: 133-137. Artículo. |
No Indexado |
No Indexado |
|
2013 |
Palanca, D.; García-Cazorla, A.; Ortiz, J.; Jou, C.; Cusi, V.; Suñol,
M.; Toll, T.; Pérez, B.; Ormazabal, A.; Fowler, B.; Artuch, R. CblE-type homocystinuria presenting with features of haemolytic- uremic syndrome in the newborn period. JIMD REPORTS. 2013; 8: 57-62. Artículo. |
No Indexado |
No Indexado |
|
2013 |
Richard, E.; Desviat, L. R.; Ugarte, M.; Pérez, B. Oxidative stress
and apoptosis in homocystinuria patients with genetic remethylation
defects. JOURNAL OF CELLULAR BIOCHEMISTRY. 2013; 114(1): 183-191. Artículo. |
3,368 |
Q2 |
|
2013 |
Bueno, M. A.; González-Lamuno, D.; Delgado-Pecellin, C.; Aldamiz-
Echevarría, L.; Pérez, B.; Desviat, L. R.; Couce, M. L. Molecular
epidemiology and genotype-phenotype correlation in phenylketonuria patients from south Spain. JOURNAL OF HUMAN GENETICS. 2013; 58(5): 279-284. Artículo. |
2,526 |
Q3 |
|
2013 |
Gallego-Villar, L.; Pérez-Cerdá, C.; Pérez, B.; Abia, D.; Ugarte, M.; Richard, E.; Desviat, L. R. Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia. JOURNAL OF INHERITED METABOLIC DISEASE. 2013; 36(5): 731-740. Artículo. |
4,138 |
Q1 |
|
2013 |
Pérez, B.; Medrano, C.; Ecay, M. J.; Ruiz-Sala, P.; Martínez-Pardo, M.; Ugarte, M.; Pérez-Cerdá, C. A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene. JOURNAL OF INHERITED METABOLIC DISEASE. 2013; 36(3): 535-542. Artículo. |
4,138 |
Q1 |
|
2013 |
Tondo, M.; Calpena, E.; Arriola, G.; Sanz, P.; Martorell, L.; Ormazabal,
A.; Castejón, E.; Palacín, M.; Ugarte, M.; Espinos, C.; Pérez, B.; Pérez-Dueñas, B.; Pérez-Cerdá, C.; Artuch, R. Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. MOLECULAR GENETICS AND METABOLISM. 2013; 110(3): 231-236. Artículo. |
2,827 |
Q2 |
|
2013 |
Puisac, B.; Teresa-Rodrigo, M. E.; Arnedo, M.; Gil-Rodríguez, M. C.; Pérez-Cerdá, C.; Ribes, A.; Pie, A.; Bueno, G.; Gómez-Puertas, P.; Pie, J. Analysis of aberrant splicing and nonsensemediated decay of the stop codon mutations c.109G > T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency. MOLECULAR GENETICS AND METABOLISM. 2013; 108(4): 232-240. Artículo. |
2,827 |
Q2 |
|
2013 |
Lubrano, R.; Pérez, B.; Elli, M. Methylmalonic acidemia and kidney transplantation. PEDIATRIC NEPHROLOGY. 2013; 28(10): 2067-2068. Carta. |
2,881 |
Q1 |
|
2012
|
Sánchez-Alcudia, R.; Pérez, B.; Ugarte, M.; Desviat, L. R. Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic academia. HUMAN MUTATION. 2012; 33(6): 973-980. Article.
|
5,213
|
Q1
|
|
2012
|
Pérez, B.; Rodríguez-Pombo, P.; Ugarte, M.; Desviat, L. R. Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease. MOLECULAR SYNDROMOLOGY. 2012; 3 (5): 230-236. Article.
|
No tiene
|
No tiene
|
|
2012
|
Carrera, I. A.; Matthijs, G.; Pérez, B.; Cerdá, C. P. DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotype. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2012; 158A(8): 2027-2030. Article.
|
2,304
|
Q3
|
|
2012
|
Casado, M.; O’Callaghan, M. M.; Montero, R.; Pérez-Cerdá, C.; Pérez, B.; Briones, P.; Quintana, E.; Muchart, J.; Aracil, A.; Pineda, M.; Artuch, R. Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia). CEREBELLUM. 2012; 11(2): 557-563. Article.
|
2,595
|
Q3
|
|
2012
|
Pérez-Dueñas, B.; Sempere, A.; Campistol, J.; Alonso-Colmenero, I.; Díez, M.; González, V.; Merinero, B.; Desviat, L.R.; Artuch, R. Novel features in the evolution of adenylosuccinate lyase defi ciency. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2012; 16(4): 343-348. Article.
|
1,982
|
Q2
|
|
2012
|
Giménez, C.; Pérez-Siles, G.; Martínez-Villarreal, J.; Arribas-González, E.; Jiménez, E.; Núñez, E.; de Juan-Sanz, J.; Fernández-Sánchez, E.; García-Tardón, N.; Ibáñez, I.; Romanelli, V.; Nevado, J.; James, V. M.; Topf, M.; Chung, S. K.; Thomas, R.H.; Desviat, L. R.; Aragón, C.; Zafra, F.; Rees, M. I.; Lapunzina, P.; Harvey, R. J.; López-Corcuera, B. A novel dominant hyperekplexia mutation Y705C alters traffi cking and biochemical properties of the presynaptic glycine transporter GlyT2. JOURNAL OF BIOLOGICAL CHEMISTRY. 2012; 287(34): 28986-29002. Article.
|
4,651
|
Q1
|
|
2012
|
Manara, R.; del Rizzo, M.; Burlina, A. P.; Bordugo, A.; Citton, V.; Rodríguez-Pombo, P.; Ugarte, M.; Burlina, A. B. Wernickelike encephalopathy during classic maple syrup urine disease decompensation. JOURNAL OF INHERITED METABOLIC DISEASE. 2012; 35(3): 413-417. Article.
|
4,07
|
Q1
|
|
2012
|
Kraus, J. P.; Spector, E.; Venezia, S.; Estes, P.; Chiang, P. W.; Creadon-Swindell, G.; Mullerleile, S.; de Silva, L.; Barth, M.; Walter, M.; Walter, K.; Meissner, T.; Lindner, M.; Ensenauer, R.; Santer, R.; Bodamer, O. A.; Baumgartner, M.R.; Brunner-Krainz, M.; Karall, D.; Haase, C.; Knerr, I.; Mar. Quardt, T.; Hennermann, J. B.; Steinfeld, R.; Beblo, S.; Koch, H. G.; Konstantopoulou, V.; Scholl-Burgi, S.; van Teeffelen-Heithoff, A.; Suormala, T.; Ugarte, M.; Sperl, W.; Superti-Furga, A.; Schwab, K. O.; Grunert, S. C.; Sass, J. O. Mutation analysis in 54 propionic acidemia patients. JOURNAL OF INHERITED METABOLIC DISEASE. 2012; 35 (1): 51-63. Article.
|
4,07
|
Q1
|
|
2012
|
Pérez, B.; Nevado, J.; Lapunzina, P.; Gallego, L.; Pérez-Cerdá, C.; Merinero, B.; Ugarte, M.; Desviat, L. R. Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases. MOLECULAR GENETICS AND METABOLISM. 2012; 105 (2): 270-271. Letter.
|
2,834
|
Q2
|
|
2011
|
Brasil, S.; Viecelli, H. M.; Meili, D.; Rassi, A.; Desviat, L. R.; Pérez, B.;
Ugarte, M.; Thony, B. Pseudoexon Exclusion by Antisense Therapy
in 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency. HUMAN
MUTATION. 2011; 32(9): 1019-1027. Article.
|
5,686
|
Q1
|
|
2011
|
Vega, A. I.; Pérez-Cerdá, C.; Abia, D.; Gámez, A.; Briones, P.; Artuch,
R.; Desviat, L. R.; Ugarte, M.; Pérez, B. Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG). JOURNAL OF INHERITED METABOLIC DISEASE. 2011; 34(4): 929-939. Article.
|
3,577
|
Q2
|
|
2011
|
Sánchez-Alcudia, R.; Pérez, B.; Pérez-Cerda, C.; Ugarte, M.; Desviat, L. R. Overexpression of adapted U1snRNA in patients' cells to correct a 5 ' splice site mutation in propionic acidemia. MOLECULAR GENETICS AND METABOLISM. 2011; 102(2): 134-138. Article.
|
3,539
|
Q1
|
|
2011
|
Arrabal, L.; Teresa. L.; Sánchez-Alcudia, R..; Castro, M.; Medrano, C.; Gutiérrez-Solana. L.; Roldan, S.; Ormazabal, A.; Pérez-Cerda, C.; Merinero, B.; Pérez, B.; Artuch, R.; Ugarte, M.; Desviat, L. R Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. NEUROGENETICS. 2011; 12(3): 183-191. Article.
|
3,488
|
Q1
|
|
2011
|
Veja, A. I.; Pérez-Cerda, C.; Abia, D.; Gámez, A.; Briones, P.; Artuch, R.; Desviat, L. R.; Ugarte, M.; Pérez, B. Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG) : Expression analysis of PMM2-CDG mutations. JOURNAL OF INHERITED METABOLIC DISEASE. 2011; 34(4): 929-939. Article.
|
3,808
|
Q2
|
|
2011
|
Sánchez-Alcudia, R.; Pérez, B.; Pérez-Cerdá, C.; Ugarte, M.; Desviat,
L. R. Overexpression of adapted U1snRNA in patients’cells to correct a 5 ‘ splice site mutation in propionic acidemia. MOLECULAR GENETICS AND METABOLISM. 2011; 102(2): 134-138. Article.
|
3,193
|
Q2
|
|
2011
|
Arrabal, L.; Teresa, L.; Sánchez-Alcudia, R.; Castro, M.; Medrano, C.; Gutiérrez-Solana, L.; Roldán, S.; Ormazabal, A.; Pérez-Cerdá, C.; Merinero, B.; Pérez, B.; Artuch, R.; Ugarte, M.; Desviat, L. R. Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. NEUROGENETICS. 2011; 12(3): 183-191. Article.
|
3,354
|
Q2
|
|
2011
|
Alcaide, P.; Merinero, B.; Ruiz-Sala, P.; Richard, E.; Navarrete, R.; Arias, A.; Ribes, A.; Artuch, R.; Campistol, J.; Ugarte, M.; Rodríguez-Pombo, P. Defining the Pathogenicity of Creatine Deficiency Syndrome. HUMAN MUTATION. 2011; 32(3): 282-291. Article.
|
5,686
|
Q1
|
|
2011
|
Navarro-Sastre, A.; Tort, F.; Stehling, O.; Uzarska, M. A.; Arranz, J.A.; del Toro, M.; Labayru, M. T.; Landa, J.; Font, A.; García-Villoria, J.; Merinero, B.; Ugarte, M.; Gutiérrez-Solana, L. G.; Campistol, J.; García-Cazorla, A.; Vaquerizo, J.; Riudor, E.; Briones, P.; Elpeleg, O.; Ribes, A.; Lill, R. A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins. AMERICAN JOURNAL OF HUMAN GENETICS. 2011; 89(5): 656-667. Article.
|
10,603
|
D1
|
|
2011
|
Couce, M. L.; Pérez-Cerdá, C.; Silva, M. T. G.; Cazorla, A. G.; Martín-Hernández, E.; Castineiras, D.; Pineda, M.; Navarrete, R.; Campistol, J.; Fraga, J. M.; Pérez, B.; Ugarte, M. Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease. MEDICINA CLINICA. 2011; 137(11): 500-503. Article.
|
1,385.
|
Q2
|
|
2011
|
Yahyaoui, R.; Espinosa, M. G.; Gómez, C.; Dayaldasani, A.; Rueda,
I.; Roldán, A.; Ugarte, M.; Lastra, G.; Pérez, V. Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker
syndrome and sudden death. MOLECULAR GENETICS AND METABOLISM. 2011; 104(3): 414-416. Article.
|
3,193
|
Q2
|
|
2011
|
Lam, C.; Desviat, L. R.; Pérez-Cerdá, C.; Ugarte, M.; Barshop, B. A.;
Cederbaum, S. 45-Year-old female with propionic acidemia, renal
failure, and premature ovarian failure, late complications of propionic
acidemia? MOLECULAR GENETICS AND METABOLISM. 2011;
103(4): 338-340. Article. |
3,193.
|
Q2
|
|
2010
|
Escalera, G. I.; Ferrer, I.; Marina, L. C.; Sala, P. R.; Salomons, G. S.; Jakobs, C.; Pérez-Cerda, C. Succinic semialdehyde dehydrogenase deficiency: Decrease in 4-OH-butyric acid levels with low doses of vigabatrin. ANALES DE PEDIATRÍA. 2010; 72(2): 128-132. Article.
|
0,57
|
Q4
|
|
2010
|
Jorge-Finnigan, A.; Gámez, A.; Pérez, B.; Ugarte, M.; Richard, E. Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 2010; 1802(11): 959-967. Article.
|
5,211
|
Q1
|
|
2010
|
Morán, M.; Rivera, H.; Sánchez-Arago, M.; Blázquez, A.; Merinero, B.; Ugalde, C.; Arenas, J.; Cuezva, J. M.; Martín, M. A. Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 2010; 1802(5): 443-453. Article.
|
5.211
|
Q1
|
|
2010
|
Lianou, D.; Gallego, L.; Michelakakis, H.; Pérez-Cerda, C.; Pérez, B.; Ginis, S.; Jakobs, C.; Ugarte, M.; Desviat, L. R. Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient. CLÍNICA CHIMICA ACTA. 2010; 411(17-18): 1388-1389. Letter.
|
2,389
|
Q1
|
|
2010
|
Dahri, S.; Desviat, L. R.; Pérez, B.; Leal, F.; Ugarte, M.; Chabraoui, L. Mutation analysis of phenylketonuria patients from Morocco: High prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. CLINICAL BIOCHEMISTRY. 2010; 43(01-feb): 76-81. Article.
|
2,043
|
Q2
|
|
2010
|
Alcaide, P.; Rodríguez-Pombo, P.; Ruiz-Sala, P.; Ferrer, I.; Castro, P.; Martín, Y. R.; Merinero, B.; Ugarte, M. A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene . DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY. 2010; 52(2): 215-217. Letter.
|
3,264
|
Q1
|
|
2010
|
Alcaide, P.; Merinero, B.; Ruiz-Sala, P.; Richard, E.; Navarrete, R.; Arias, A.; Ribes, A.; Artuch, R.; Campistol, J.; Ugarte, M.; Rodríguez-Pombo, P. Defining the pathogenicity of creatine deficiency syndrome. HUMAN MUTATION. 2010; 32(3): 282-291. Article.
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5,956
|
Q1
|
|
2010
|
Jorge-Finnigan, A.; Aguado, C.; Sánchez-Alcudia, R.; Abia, D.; Richard, E.; Merinero, B.; Gámez, A.; Banerjee, R.; Desviat, L. R.; Ugarte, M.; Pérez, B. Functional and Structural Analysis of Five Mutations Identified in Methylmalonic Aciduria cblB Type. HUMAN MUTATION. 2010; 31(9): 1033-1042. Article.
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5,956
|
Q1
|
|
2010
|
Puisac, B.; Arnedo, M.; Casale, C. H.; Ribate, M. P.; Castiella, T.; Ramos, F. J.; Ribes, A.; Pérez-Cerda, C.; Casals, N.; Hegardt, F. G.; Pie, J. Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria. JOURNAL OF INHERITED METABOLIC DISEASE. 2010; 33(4): 405-410. Article.
|
3,808
|
Q2
|
|
2010
|
Pérez, B.; Rodríguez-Pascau, L.; Vilageliu, L.; Grinberg, D.; Ugarte, M.; Desviat, L. R. Present and future of antisense therapy for splicing modulation in inherited metabolic disease. JOURNAL OF INHERITED METABOLIC DISEASE. 2010; 33(4): 397-403. Review.
|
3,808
|
Q2
|
|
2010
|
Sempere, A.; Arias, A.; Farre, G.; García-Villoria, J.; Rodríguez-Pombo, P.; Desviat, L. R.; Merinero, B.; García-Cazorla, A.; Vilaseca, M. A.; Ribes, A.; Artuch, R.; Campistol, J. Study of inborn errors of metabolism in urine from patients with unexplained mental retardation. JOURNAL OF INHERITED METABOLIC DISEASE. 2010; 33(1): 1-7. Article.
|
3,808
|
Q2
|
|
2010
|
Pérez, B.; Angaroni, C.; Sánchez-Alcudia, R.; Merinero, B.; Pérez-Cerda, C.; Specola, N.; Rodríguez-Pombo, P.; Wajner, M.; de Kremer, R. D.; Cornejo, V.; Desviat, L. R.; Ugarte, M. The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. JOURNAL OF INHERITED METABOLIC DISEASE. 2010; 33(Suppl. 2): S307-S314. Article.
|
3,808
|
Q2
|
|
2010
|
Rivera, H.; Merinero, B.; Martínez-Pardo, M.; Arroyo, I.; Ruiz-Sala, P.; Bornstein, B.; Serra-Suhe, C.; Gallardo, E.; Marti, R.; Morán, M. J.; Ugalde, C.; Pérez-Jurado, L. A.; Andreu, A. L.; Garesse, R.; Ugarte, M.; Arenas, J.; Martín, M. A. Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch. MITOCHONDRION. 2010; 10(4): 362-368. Article.
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3,808
|
Q2
|
|
2009
|
Quental, S.; Gusmao, A.; Rodríguez-Pombo, P.; Ugarte, M.; Vilarinho, L.; Amorim, A.; Prata, M. J. Revisiting MSUD in Portuguese Gypsies: Evidence for a Founder Mutation and for a Mutational Hotspot within the BCKDHA Gene. ANNALS OF HUMAN GENETICS. 2009; 73(Part 3): 298-303. Article.
|
2,604
|
Q2
|
|
2009
|
Richard, E.; Vega, A. I.; Pérez, B.; Roche, C.; Velázquez, R.; Ugarte, M.; Pérez-Cerda, C. Congenital disorder of glycosylation Ia: New differentially expressed proteins identified by 2-DE. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2009; 379(2): 267-271. Article.
|
2,595
|
Q3
|
|
2009
|
Houtkooper, R. H.; Turkenburg, M.; Poll-The, B. T.; Karall, D.; Pérez-Cerda, C.; Morrone, A.; Malvagia, S.; Wanders, R. J.; Kulik, W.; Vaz, F. M. The enigmatic role of tafazzin in cardiolipin metabolism. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES. 2009; 1788(10): 2003- 2014. Review.
|
4,647
|
Q1
|
|
2009
|
García-Villoria, J.; Navarro-Sastre, A.; Fons, C.; Pérez-Cerda, C.; Baldellou, A.; Fuentes-Castello, M. A.; González, I.; Hernández-González, A.; Fernández, C.; Campistol, J.; Delpiccolo, C.; Cortes, N.; Messeguer, A.; Briones, P.; Ribes, A. Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis. CLINICAL BIOCHEMISTRY. 2009; 42(01-feb): 27-33. Article.
|
2,043
|
Q2
|
|
2009
|
Pérez-Dueñas, B.; García-Cazorla, A.; Pineda, M.; Poo, P.; Campistol, J.; Cusi, V.; Schollen, E.; Matthijs, G.; Grunewald, S.; Briones, P.; Pérez-Cerda, C.; Artuch, R.; Vilaseca, M. A. Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2009; 13(5): 444-451. Article.
|
1,994
|
Q2
|
|
2009
|
Junquera, C. G.; Balmaseda, E.; Gil, E.; Martínez, A.; Sorli, M.; Cuartero, I.; Merinero, B.; Ugarte, M. Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency. EUROPEAN JOURNAL OF PEDIATRICS. 2009; 168(1): 103-106. Article.
|
1,644
|
Q2
|
|
2009
|
Vega, A. I.; Pérez-Cerda, C.; Desviat, L. R.; Matthijs, G.; Ugarte, M.; Pérez, B. Functional Analysis of Three Splicing Mutations Identified in the PMM2 Gene: Toward a New Therapy for Congenital Disorder of Glycosylation type IA. HUMAN MUTATION. 2009; 30(5): 795-803. Article.
|
5,956
|
Q1
|
|
2009
|
Richard, E.; Jorge-Finnigan, A.; García-Villoria, J.; Merinero, B.; Desviat, L. R.; Gort, L.; Briones, P.; Leal, F.; Pérez-Cerda, C.; Ribes, A.; Ugarte, M.; Pérez, B. Genetic and Cellular Studies of Oxidative Stress in Methylmalonic Aciduria (MMA) Cobalamin Deficiency Type C (cblC) With Homocystinuria (MMACHC). HUMAN MUTATION; 2009; 30(11): 1558-1566. Article.
|
5,956
|
Q1
|
|
2009
|
Pérez, B.; Rincon, A.; Jorge-Finnigan, A.; Richard, E.; Merinero, B.; Ugarte, M.; Desviat, L. R. Pseudoexon Exclusion by Antisense Therapy in Methylmalonic Aciduria (MMAuria). HUMAN MUTATION. 2009; 30(12): 1676-1682. Article.
|
5,956
|
Q1
|
|
2009
|
Menao, S.; López-Vinas, E.; Mir, C.; Puisac, B.; Gratacos, E.; Arnedo, M.; Carrasco, P.; Moreno, S.; Ramos, M.; Gil, M. C.; Pie, A.; Ribes, A.; Pérez-Cerda, C.; Ugarte, M.; Clayton, P. T.; Korman, S. H.; Serra, D.; Asins, G.; Ramos, F. J.; Gómez-Puertas, P.; Hegardt, F. G.; Casals, N.; Pie, J. Ten Novel HMGCL Mutations in 24 Patients of Different Origin with 3-Hydroxy-3-Methyl-Glutaric Aciduria. HUMAN MUTATION; 2009; 30(3): E520-E529. Article.
|
5,956
|
Q1
|
|
2009
|
Sarkissian, C. N.; Gámez, A.; Scriver, C. R. What we know that could influence future treatment of phenylketonuria. JOURNAL OF INHERITED METABOLIC DISEASE. 2009; 32(1): 3-9. Article.
|
3,808
|
Q2
|
|
2009
|
Sempere, A.; Fons, C.; Arias, A.; Rodríguez-Pombo, P.; Merinero, B.; Alcaide, P.; Capdevila, A.; Ribes, A.; Duque, R.; Eiris, J.; Poo, P.; Fernández-Alvarez, E.; Campistol, J.; Artuch, R. Cerebral creatine deficiency: First Spanish patients harbouring mutations in GAMT gene. MEDICINA CLÍNICA. 2009; 133(19): 745-749. Article.
|
1,413
|
Q2
|
|
2009
|
Desviat, L. R.; Sánchez-Alcudia, R.; Pérez, B.; Pérez-Cerda, C.; Navarrete, R.; Vijzelaar, R.; Ugarte, M. High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. MOLECULAR GENETICS AND METABOLISM. 2009; 96(4): 171-176. Article.
|
3,539
|
Q1
|
|
2009
|
Steventon, G. B.; Mitchell, S. C.; Pérez, B.; Desviat, L. R.; Ugarte, M. The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of Scarboxymethyl-L-cysteine MOLECULAR GENETICS AND METABOLISM. 2009; 96(1): 27-31. Article.
|
3,539
|
Q1
|
|
2009
|
Stojiljkovic, M.; Pérez, B.; Desviat, L. R.; Aguado, C.; Ugarte, M.; Pavlovic, S. The Missense p.S231F Phenylalanine Hydroxylase Gene Mutation Causes Complete Loss of Enzymatic Activity In Vitro. PROTEIN JOURNAL. 2009; 28(6): 294-299. Article.
|
1,101
|
Q4
|
|
|
|
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