Paskal Cullufi, Sonila Tomori, Virtut Velmishi, Agim Gjikopulli, Ilir Akshija, Aferdita Tako, Ermira Dervishi, Gladiola Hoxha, Marjeta Tanka, Erjon Troja, Mirela Tabaku
INTRODUCTION: Enzyme replacement therapy is already recognized as the gold standard of care for patients with Gaucher disease. Taliglucerase alfa is one of the three alternatives recommended for treatment of Gaucher disease in children and adults. AIM: This study aims to evaluate the long-term efficacy and safety of Taliglucerase alfa in children and adolescents with Type 1 Gaucher disease. PATIENTS AND METHODS: Over a six-year period, we monitored the efficacy of continuous treatment in 10 patients by assessing various parameters, including hemoglobin concentration, platelet count, liver and spleen volume, bone mineral density, glucosylsphingosine level, chitotriosidase activity, and growth parameters ...
2024: Frontiers in Pediatrics