1.
Clin Case Rep
; 6(6): 1051-1054, 2018 Jun.
Artículo
en Inglés
| MEDLINE
| ID: mdl-29881562
RESUMEN
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.