Pilar Rodríguez‐Pombo
- Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase
2004/11/04 by Pilar Rodríguez-Pombo, Pilar Rodríguez‐Pombo, Celia Pérez-Cerdá +6 · 3 citations
Biochemistry, Genetics and Molecular Biology · Chemistry · Neuroscience · #Allele #Biology #Biotin and Related Studies #Chemistry #Complementation #Dimer #Gene #Genetic Neurodegenerative Diseases #Genetics #Locus (genetics) #Molecular biology #Mutant #Neurological diseases and metabolism #Phenotype #Protein subunit #Trimer
- BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
2023/02/02 by Trine Tangeraas, Juliana Ribeiro Constante, Paul Hoff Backe +28 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Genetics and Neurodevelopmental Disorders #Genomics and Rare Diseases #Metabolism and Genetic Disorders