article_metadata: Hee Jae Huh Ja Young Seo Sung Yoon Cho Chang-Seok Ki Soo-Youn Lee Jong-Won Kim Hyung-Doo Park Dong-Kyu Jin
article_metadata: 10.3343/alm.2013.33.1.75
article_metadata: Ann Lab Med
article_metadata: 2013 Jan;33(1):75-9.
article_metadata: hgsnat korea mucopolysaccharidosis iiic sanfilippo syndrome
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/23301227/
article_metadata: Acetyltransferases / genetics Asian People / genetics Mucopolysaccharidosis III / diagnosis
article_metadata: 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
article_metadata: PMC3535201
article_metadata: 23301227
article_metadata: The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation
article_metadata: 2013