Association of somatic burden of disease with age and neuropsychological measures in attenuated mucopolysaccharidosis types I II and VI

摘要

IntroductionThe mucopolysaccharidoses (MPSs) are a group of rare genetic lysosomal disorders with progressive multisystem involvement. An MPS-specific physical symptom scale was developed and introduced a Physical Symptom Score (PSS) to quantify the somatic disease burden across MPS I, II and VI.