학술논문

Novel NAGLU variants associated with MPS IIIB and in vitro analysis of residual enzymatic activities.
Document Type
Article
Source
Molecular Genetics & Metabolism. Jan2017, Vol. 120 Issue 1/2, pS71-S71. 1p.
Subject
*SANFILIPPO syndrome
*N-acetylglucosaminidase
*HEPARAN sulfate
*GENETIC mutation
*EARLY death
Language
ISSN
1096-7192