Sanfilippo syndrome: consensus guidelines for clinical care.

ABSTRACT: Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive neurological decline and multisystem involvement requires a multidisciplinary team with experience in the management of neurodegenerative disorders. Best practice guidelines for the clinical management of patients with these types of rare disorders are critical to ensure prompt diagnosis and initiation of appropriate care. However, there are no published standard global clinical care guidelines for patients with Sanfilippo syndrome. To address this, a literature review was conducted to evaluate the current evidence base and to identify evidence gaps. The findings were reviewed by an i

SUBMITTER: Muschol N 

PROVIDER: S-EPMC9612603 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature