KEGG   VARIANT: 4669v1
Entry
4669v1                      Variant                                
Name
NAGLU deficiency
Type
Loss of function
Gene
NAGLU  N-acetyl-alpha-glucosaminidase [KO:K01205]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609701
Network
nt06012  Glycosaminoglycan degradation
Disease
H00130  Mucopolysaccharidosis type III
Drug target
Lesinidase alfa: D11199
Reference
PMID:26907177
  Authors
Meijer OLM, Welling L, Valstar MJ, Hoefsloot LH, Bruggenwirth HT, van der Ploeg AT, Ruijter GJG, Wagemans T, Wijburg FA, van Vlies N
  Title
Residual N-acetyl-alpha-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.
  Journal
J Inherit Metab Dis 39:437-445 (2016)
DOI:10.1007/s10545-016-9916-2
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