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p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.
Ngiwsara, Lukana; Ketudat-Cairns, James R; Sawangareetrakul, Phannee; Charoenwattanasatien, Ratana; Champattanachai, Voraratt; Kuptanon, Chulaluck; Pangkanon, Suthipong; Tim-Aroon, Thipwimol; Wattanasirichaigoon, Duangrurdee; Svasti, Jisnuson.
Affiliation
  • Ngiwsara L; Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.
  • Ketudat-Cairns JR; Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.
  • Sawangareetrakul P; School of Chemistry, Institute of Science, Suranaree University of Technology, Nakhon Ratchasima, Thailand.
  • Charoenwattanasatien R; Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.
  • Champattanachai V; Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.
  • Kuptanon C; Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.
  • Pangkanon S; Queen Sirikit National Institute of Child Health, Bangkok, Thailand.
  • Tim-Aroon T; Queen Sirikit National Institute of Child Health, Bangkok, Thailand.
  • Wattanasirichaigoon D; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
  • Svasti J; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Ann Hum Genet ; 82(3): 150-157, 2018 05.
Article in En | MEDLINE | ID: mdl-29282708
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mucopolysaccharidosis I / Iduronidase Limits: Animals / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Ann Hum Genet Year: 2018 Document type: Article Affiliation country: Tailandia Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mucopolysaccharidosis I / Iduronidase Limits: Animals / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Ann Hum Genet Year: 2018 Document type: Article Affiliation country: Tailandia Country of publication: Reino Unido