The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences
Keywords: Card, cardiologist; ENT, ear nose and throat; ERT, enzyme replacement therapy; EU, Europe; GAG, glycosaminoglycan; Gen Pract, general practitioner; Gen/Met Dis, geneticist/metabolic disease specialist; HSCT, hematopoietic stem cell transplant; IDUA, α-l-i