title: NEU1 mutation in a Korean infant with type 2 sialidosis presenting as isolated fetal ascites.
authors.affiliation: Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, South Korea.
authors.forename: Yeoun-Joo
authors.initials: YJ
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, South Korea.
authors.forename: Seung-Kook
authors.initials: SK
authors.lastname: Son
authors.affiliation: Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, South Korea.
authors.forename: Jae-Hong
authors.initials: JH
authors.lastname: Park
authors.affiliation: Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea.
authors.forename: Ji-Sun
authors.initials: JS
authors.lastname: Song
authors.affiliation: Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, South Korea; Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea. Electronic address: chongkun72@hanmail.net.
authors.forename: Chong-Kun
authors.initials: CK
authors.lastname: Cheon
mesh_terms: D001201:Ascites / Q000209:etiology; D044466:Asian People / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000209:etiology; D006801:Humans; D007223:Infant; D009081:Mucolipidoses / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D009439:Neuraminidase / Q000235:genetics*; D011247:Pregnancy; D056910:Republic of Korea
chemical_list: C486385:NEU1 protein, human; D009439:Neuraminidase