Author

Pilar Rodríguez‐Pombo

Observed names: P Rodriguez-Pombo, P Rodríguez-Pombo, P Rodrı́guez-Pombo, P. Rodriguez-Pombo, P. Rodriguez‐Pombo, P. Rodríguez Pombo, P. Rodríguez-Pombo, P. Rodríguez‐Pombo, P. Rodrı́guez-Pombo, Pilar Rodriguez, Pilar Rodriguez Pombo, Pilar Rodriguez-Pombo, Pilar Rodriguez‐Pombo, Pilar Rodríguez-Pombo, Pilar Rodr�guez-Pombo, Rodriguez-Pombo, Pilar, Rodríguez-Pombo, Pilar

Institutions: Consejo Superior de Investigaciones Científicas, Instituto de Salud Carlos III, Hospital La Paz Institute for Health Research, Centre for Biomedical Network Research on Rare Diseases, Centro de Biología Molecular Severo Ochoa, Universidad Autónoma de Madrid

Observed institutions: Hospital Sant Joan de Déu Barcelona, Consejo Superior de Investigaciones Científicas, Hospital Universitario La Paz, Instituto de Salud Carlos III, Hospital La Paz Institute for Health Research, Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Stanford Medicine, Centro de Biología Molecular Severo Ochoa, Universidad Autónoma de Madrid, Universitat de Barcelona, Stanford University

ORCID: 0000-0001-9315-5906

Observed ORCID: 0000-0001-9315-5906

OpenAlex ID: A5045221196

A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in thePPM1KGene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

2012 · Alfonso Oyarzabal, Mercedes Martínez-Pardo, et al. · Human Mutation · 121

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Candida albicans estrogen-binding protein gene encodes an oxidoreductase that is inhibited by estradiol.

1994 · N D Madani, P J Malloy, et al. · Proceedings of the National Academy of Sciences · 114

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

2016 · Curtis R. Coughlin, Michael A. Swanson, et al. · Genetics in Medicine · 101

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Overview of mutations in the PCCA and PCCB genes causing propionic acidemia

1999 · Magdalena Ugarte, Celia P�rez-Cerd�, et al. · Human Mutation · 98

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

2017 · Gillian Rice, Naoki Kitabayashi, et al. · Neuropediatrics · 92

Propionic acidemia: mutation update and functional and structural effects of the variant alleles

2004 · L.R. Desviat, B. Pérez, et al. · Molecular Genetics and Metabolism · 90

Two Novel Mutations in theBCKDK(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

2014 · Angels García-Cazorla, Alfonso Oyarzabal, et al. · Human Mutation · 87

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The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism

2001 · M.Esther Gallardo, Lourdes R. Desviat, et al. · The American Journal of Human Genetics · 86

2016 · Juan Darío Ortigoza-Escobar, Alfonso Oyarzabal, et al. · Mitochondrion · 81

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

2017 · Juan Darío Ortigoza‐Escobar, Majid Alfadhel, et al. · Annals of Neurology · 71

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

2015 · Juan Darío Ortigoza-Escobar, Marta Molero-Luis, et al. · Brain · 71

Thiamine transporter-2 deficiency: outcome and treatment monitoring

2014 · Juan Darío Ortigoza-Escobar, Mercedes Serrano, et al. · Orphanet Journal of Rare Diseases · 70

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Potential relationship between genotype and clinical outcome in propionic acidaemia patients

2000 · C Pérez-Cerdá, B Merinero, et al. · European Journal of Human Genetics · 70

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America

2003 · B Pérez, L.R Desviat, et al. · Molecular Genetics and Metabolism · 64

Mutational spectrum of maple syrup urine disease in Spain

2006 · Pilar Rodríguez-Pombo, Rosa Navarrete, et al. · Human Mutation · 58

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Treatment of genetic defects of thiamine transport and metabolism

2016 · Juan Darío Ortigoza-Escobar, Marta Molero-Luis, et al. · Expert Review of Neurotherapeutics · 51

An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis

1998 · C. Pérez-Cerdá, B. Merinero, et al. · European Journal of Pediatrics · 50

An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis

2024 · Juan Cruz Herrero Martín, Beñat Salegi Ansa, et al. · Nature Metabolism · 47

Human Propionyl-CoA Carboxylase β Subunit Gene: Exon-Intron Definition and Mutation Spectrum in Spanish and Latin American Propionic Acidemia Patients

1998 · Pilar Rodríguez-Pombo, Janet Hoenicka, et al. · The American Journal of Human Genetics · 46

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Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

2016 · Ana I Vega, Celia Medrano, et al. · Genetics in Medicine · 44

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Altered Redox Homeostasis in Branched‐Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria

2018 · Eva Richard, Lorena Gallego-Villar, et al. · Oxidative Medicine and Cellular Longevity · 39

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Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism

2016 · A. Oyarzabal, I. Bravo-Alonso, et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 37

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Study of inborn errors of metabolism in urine from patients with unexplained mental retardation

2010 · Angela Sempere, Angela Arias, et al. · Journal of Inherited Metabolic Disease · 37

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Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts

2003 · C. Pérez-Cerdá, S. Clavero, et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 37

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BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

2023 · Trine Tangeraas, Juliana R Constante, et al. · Brain · 36

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Works count: 80

Citation count: 2,279

H-index: 28

I10-index: 52