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Clin Case Rep
; 6(6): 1051-1054, 2018 Jun.
Article
in English
| MEDLINE
| ID: mdl-29881562
ABSTRACT
Homozygous or compound heterozygous mutation in the gene encoding N-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.