M. Estela Rubio‐Gozalbo
Papers
2
Total Citations
56
H-Index
2
About
M. Estela Rubio‐Gozalbo is a leading researcher in the field of inborn errors of metabolism, with a particular focus on galactosaemia. Her work has fundamentally advanced the understanding of classical galactosaemia, a rare genetic disorder that disrupts galactose metabolism. Dr. Rubio‐Gozalbo’s major contributions center on the role of glycosylation in the disease’s pathophysiology. She demonstrated that patients with classical galactosaemia exhibit distinct abnormalities in IgG N-glycosylation, providing novel insights into the biosynthesis of N-glycans and the long-term complications of the disorder. Her landmark 2016 paper, "Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis," has garnered 46 citations, underscoring its impact. Additionally, her 2015 work on IgG N-Glycosylation Galactose Incorporation Ratios established a potential biomarker for monitoring disease status and treatment efficacy. Through these studies, Dr. Rubio‐Gozalbo has not only deepened the mechanistic understanding of galactosaemia but also opened new avenues for clinical monitoring and therapeutic intervention, making her a pivotal figure in metabolic disease research.
Research Focus
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Top Papers
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