Smuts, Izelle; Potgieter, Denise; Van der Westhuizen, Francois Hendrikus
(Blackwell, 2008)
Mucolipidosis type III (MLIII) (MIM# 252600) is an uncommon autosomal recessive disorder that results from uridine 5'-diphosphate-N-acetylglucosamine: lysosomal hydrolase N-acetyl-1-phosphotransferase or UDP-GlcNAc ...