Hee Jae Huh Ja Young Seo Sung Yoon Cho Chang-Seok Ki Soo-Youn Lee Jong-Won Kim Hyung-Doo Park Dong-Kyu Jin
10.3343/alm.2013.33.1.75
Ann Lab Med
2013 Jan;33(1):75-9.
hgsnat korea mucopolysaccharidosis iiic sanfilippo syndrome
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/23301227/
Acetyltransferases / genetics Asian People / genetics Mucopolysaccharidosis III / diagnosis
Acetyltransferases / genetics Asian People / genetics Mucopolysaccharidosis III / diagnosis Case Reports Base Sequence Child, Preschool Chromatography, Thin Layer Female Glycosaminoglycans / urine Heparitin Sulfate / chemistry Heparitin Sulfate / metabolism Humans Leukocytes / immunology Leukocytes / metabolism Mucopolysaccharidosis III / diagnostic imaging Mucopolysaccharidosis III / genetics Mutation Radiography Republic of Korea Sequence Analysis, DNA Glycosaminoglycans Heparitin Sulfate Acetyltransferases HGSNAT protein, human
PMC3535201
23301227
The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation
2013