Ontology highlight
ABSTRACT:
SUBMITTER: Hettiarachchi D
PROVIDER: S-EPMC5986016 | biostudies-other | 2018 Jun
REPOSITORIES: biostudies-other
Clinical case reports 20180414 6
Homozygous or compound heterozygous mutation in the gene encoding <i>N</i>-alpha-acetylglucosaminidase (NAGLU) on chromosome 17q21 results in Sanfilippo B, resulting in excess accumulation of intralysosomal glycosaminoglycans (mucopolysaccharides) in various tissues. We wish to report a novel homozygous variant in a child with features of Sanfilippo syndrome B. ...[more]