Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver survey.
Morrison A, Oussoren E, Friedel T, Cruz J, Yilmaz N
Orphanet journal of rare diseases, 2019 11 14
Abstract
Mucopolysaccharidosis type VII (Sly disease, MPS VII), is an ultra-rare, multi-symptom disease with variable clinical presentations which can present challenges with diagnosis, management and care. We believe this survey is the first to explore the patient experience through direct questioning of the caregivers of 13 individuals with MPS VII.