Isabel A. Rivera - Genetic Mutations

Author Information

Isabel A. Rivera is a researcher at the Metabolism and Genetics Laboratory, Research Institute for Medicines (i.Med.ULisboa), Faculty of Pharmacy, University of Lisbon, located in Lisbon, Portugal. Her research focuses on genetic and metabolic disorders, with a particular emphasis on enzyme deficiencies and their clinical implications.

Research Contributions

Isabel A. Rivera has made significant contributions to the field of genetics and metabolism. Her work primarily revolves around the study of enzyme deficiencies such as pyruvate dehydrogenase complex deficiency and galactokinase deficiency. She has also delved into the clinical, metabolic, and mutational landscapes of these conditions. Her research extends to the genetic interactions in homocysteine metabolism, the molecular study of Darier disease, and the suppression of aneuploidy-associated phenotypes in Trisomy 21 cells. Over the years, Rivera has published numerous papers, contributing extensively to our understanding of these complex genetic disorders.

Aliases

Isabel Rivera is known by several aliases, including Isabel A. Rivera, I Rivera, I A Rivera, and I.a. Rivera.

Publication and Citation Metrics

Metric Value
Citation Count 1639
H-index 20
Paper Count 69

Publications:

DOI: 10.1038/s41436-020-00942-9

Year: 2020

DOI: 10.1016/j.heliyon.2019.e02520

Year: 2019

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