Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort.
Grigoris EffraimidisUlla Feldt-RasmussenÅse Krogh RasmussenPamela LavoieMona AbaouiMichel BoutinChristiane Auray-BlaisPublished in: Journal of medical genetics (2020)
Women with Fabry disease who started treatment based on clinical manifestations had higher lyso-Gb3 and analogue biomarker levels than never treated women. This indicates that a biomarker cut-off could potentially be a decision tool for treatment initiation in women with Fabry disease.