The correlation between bone biomarkers, glucosylsphingosine levels, and molecular findings in Gaucher type 1 patients under enzyme therapy

Affiliations

Ersoy Melike: Department of Pediatric Metabolism Disease, Istanbul Bakirkoy Dr Sadi Konuk Training and Research Hospital, Istanbul, Turkey
Yegül Duygu: Department of Radiology, Istanbul Bakirkoy Dr Sadi Konuk Training and Research Hospital, Istanbul, Turkey
Pişkinpaşa Hamide: Department of Internal Medicine, Division of Endocrinology and Metabolism, Istanbul Bakirkoy Dr Sadi Konuk Training and Research Hospital, Istanbul, Turkey
Gedikbasi Asuman: Department of Pediatric Basic Sciences, Division of Medical Genetics, Istanbul University Istanbul Faculty of Medicine, Istanbul, Turkey

Abstract

We aimed to determine the relationship of Lyso-Gb1 levels, bone biomarkers, and mutation findings with bone marrow burden (BMB) scores.