Pilar Rodríguez‐Pombo

A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the<i>PPM</i><i>1</i><i>K</i>Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

Alfonso Oyarzábal, Mercedes Martínez‐Pardo, B. Merinero et al. · Human Mutation · 2012 · 119 citations

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

Nahid D. Madani, P J Malloy, Pilar Rodríguez‐Pombo et al. · Proceedings of the National Academy of Sciences · 1994 · 112 citations · Full text

Fungal Cell Biology, Genetics, Molecular Biology +17

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

Curtis R. Coughlin, Michael A. Swanson, Kathryn E. Kronquist et al. · Genetics in Medicine · 2016 · 97 citations · Full text

Metabolic Syndrome, Metabolic Disorder, Genetic Disorder +8

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

Gillian Rice, Naoki Kitabayashi, Magalie Barth et al. · Neuropediatrics · 2017 · 90 citations · Full text

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

M. Esther Gallardo, Lourdes R. Desviat, José Manuel Rodríguez Rodríguez et al. · The American Journal of Human Genetics · 2001 · 85 citations · Full text

Urology, Biochemistry, Catabolism +4