Gene symbol: NAGLU. Disease: Sanfillipo syndrome B.
Villani
G R D
GR
University of Naples Federico II, Department of Biochemistry and Medical Biotechnologies, Naples, Italy. villani@dbbm.unina.it
Pontarelli
G
G
Vitale
D
D
Di Natale
P
P
D000118:Acetylglucosaminidase / Q000172:deficiency / Q000235:genetics*; D019943:Amino Acid Substitution; D006801:Humans; D020125:Mutation, Missense
C033079:alpha-N-acetyl-D-glucosaminidase; D000118:Acetylglucosaminidase