Candida albicans estrogen-binding protein gene encodes an oxidoreductase that is inhibited by estradiol. ND Madani, PJ Malloy, P Rodriguez-Pombo, AV Krishnan, D Feldman Proceedings of the National Academy of Sciences 91 (3), 922-926, 1994 | 141 | 1994 |
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia M Ugarte, C Pérez‐Cerdá, P Rodríguez‐Pombo, LR Desviat, B Pérez, ... Human mutation 14 (4), 275-282, 1999 | 105 | 1999 |
Propionic acidemia: mutation update and functional and structural effects of the variant alleles LR Desviat, B Perez, C Perez-Cerda, P Rodriguez-Pombo, S Clavero, ... Molecular genetics and metabolism 83 (1-2), 28-37, 2004 | 103 | 2004 |
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism ME Gallardo, LR Desviat, JM Rodríguez, J Esparza-Gordillo, ... The American Journal of Human Genetics 68 (2), 334-346, 2001 | 98 | 2001 |
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 … A Oyarzabal, M Martínez‐Pardo, B Merinero, R Navarrete, LR Desviat, ... Human mutation 34 (2), 355-362, 2013 | 89 | 2013 |
Two Novel Mutations in the BCKDK (Branched‐Chain Keto‐Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric … A García‐Cazorla, A Oyarzabal, J Fort, C Robles, E Castejon, ... Human mutation 35 (4), 470-477, 2014 | 83 | 2014 |
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT CR Coughlin, MA Swanson, K Kronquist, C Acquaviva, T Hutchin, ... Genetics in Medicine 19 (1), 104-111, 2017 | 82 | 2017 |
Propionic acidemia: identification of twenty-four novel mutations in Europe and North America B Perez, LR Desviat, P Rodrıguez-Pombo, S Clavero, R Navarrete, ... Molecular genetics and metabolism 78 (1), 59-67, 2003 | 82 | 2003 |
Potential relationship between genotype and clinical outcome in propionic acidaemia patients C Pérez-Cerdá, B Merinero, P Rodriguez-Pombo, B Pérez, LR Desviat, ... European Journal of Human Genetics 8 (3), 187-194, 2000 | 70 | 2000 |
Genetic, phenotypic, and interferon biomarker status in ADAR1-related neurological disease GI Rice, N Kitabayashi, M Barth, TA Briggs, ACE Burton, ML Carpanelli, ... Neuropediatrics 48 (03), 166-184, 2017 | 69 | 2017 |
Thiamine transporter-2 deficiency: outcome and treatment monitoring JD Ortigoza-Escobar, M Serrano, M Molero, A Oyarzabal, M Rebollo, ... Orphanet Journal of Rare Diseases 9, 1-10, 2014 | 68 | 2014 |
Mutational spectrum of maple syrup urine disease in Spain P Rodríguez‐Pombo, R Navarrete, B Merinero, P Gómez‐Puertas, ... Human Mutation 27 (7), 715-715, 2006 | 65 | 2006 |
Thiamine deficiency in childhood with attention to genetic causes: survival and outcome predictors JD Ortigoza‐Escobar, M Alfadhel, M Molero‐Luis, N Darin, R Spiegel, ... Annals of neurology 82 (3), 317-330, 2017 | 62 | 2017 |
Ndufs4 related Leigh syndrome: a case report and review of the literature JD Ortigoza-Escobar, A Oyarzabal, R Montero, R Artuch, C Jou, ... Mitochondrion 28, 73-78, 2016 | 62 | 2016 |
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome JD Ortigoza-Escobar, M Molero-Luis, A Arias, A Oyarzabal, N Darín, ... Brain 139 (1), 31-38, 2016 | 62 | 2016 |
An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis C Perez-Cerda, B Merinero, M Marti, JC Cabrera, L Pena, MJ Garcia, ... European journal of pediatrics 157, 50-52, 1998 | 49 | 1998 |
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation A Sempere, A Arias, G Farré, J García-Villoria, P Rodríguez-Pombo, ... Journal of inherited metabolic disease 33, 1-7, 2010 | 45 | 2010 |
Human propionyl-CoA carboxylase β subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients P Rodríguez-Pombo, J Hoenicka, S Muro, B Pérez, C Pérez-Cerdá, ... The American Journal of Human Genetics 63 (2), 360-369, 1998 | 42 | 1998 |
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing AI Vega, C Medrano, R Navarrete, LR Desviat, B Merinero, ... Genetics in medicine 18 (10), 1037-1043, 2016 | 41 | 2016 |
Treatment of genetic defects of thiamine transport and metabolism JD Ortigoza-Escobar, M Molero-Luis, A Arias, L Martí-Sánchez, ... Expert Review of Neurotherapeutics 16 (7), 755-763, 2016 | 41 | 2016 |