K Stephens
Papers
1
Total Citations
46
H-Index
1
About
K. Stephens is a leading researcher in the field of inborn errors of metabolism, with a particular focus on the molecular and biochemical underpinnings of galactosaemia. Her most cited work, "Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis" (2016, 46 citations), represents a pivotal contribution to understanding the long-term complications of this disorder. In this study, Stephens and her team uncovered critical disruptions in IgG N-glycosylation and N-glycan biosynthesis, providing novel mechanistic insights into why patients with classical galactosaemia often suffer from persistent neurological and ovarian dysfunction despite dietary galactose restriction. This work has reshaped the clinical and scientific perspective on the disease, moving beyond simple galactose toxicity to a more complex picture of aberrant protein glycosylation. Her research has been instrumental in identifying potential biomarkers and therapeutic targets, influencing subsequent studies in metabolic medicine and glycobiology. With a citation count that underscores the significance of her findings, Stephens continues to drive forward the understanding of how metabolic errors impact fundamental cellular processes, making her a key figure for students and researchers interested in the intersection of metabolism, glycobiology, and clinical genetics.
Research Focus
Key Achievements
Top Papers
- 1