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Pilar Rodriguez Pombo
Pilar Rodriguez Pombo
Unknown affiliation
Verified email at cbm.csic.es
Title
Cited by
Cited by
Year
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
1411994
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
1051999
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
1032004
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
982001
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
892013
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
832014
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
822017
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
822003
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
702000
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
692017
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
682014
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
652006
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
622017
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
622016
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
622016
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
491998
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
452010
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
421998
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
412016
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
412016
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