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Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry.
Yi, Fan; Hong, Xinying; Kumar, Arun Babu; Zong, Chengli; Boons, Geert-Jan; Scott, C Ronald; Turecek, Frantisek; Robinson, Bruce H; Gelb, Michael H.
Affiliation
  • Yi F; Department of Chemistry, Bagley Hall, University of Washington, Box 351700, Seattle, Washington 98195-1700, United States.
  • Hong X; Department of Chemistry, Bagley Hall, University of Washington, Box 351700, Seattle, Washington 98195-1700, United States.
  • Kumar AB; Department of Chemistry, Bagley Hall, University of Washington, Box 351700, Seattle, Washington 98195-1700, United States.
  • Zong C; University of Georgia's Complex Carbohydrate Research Center, 315 Riverbend Road, Athens, GA 30602, United States.
  • Boons GJ; University of Georgia's Complex Carbohydrate Research Center, 315 Riverbend Road, Athens, GA 30602, United States.
  • Scott CR; Department of Pediatrics, RR 310 Health Science Building, University of Washington, Box 356320, Seattle, Washington 98195-6320, United States.
  • Turecek F; Department of Chemistry, Bagley Hall, University of Washington, Box 351700, Seattle, Washington 98195-1700, United States.
  • Robinson BH; Department of Chemistry, Bagley Hall, University of Washington, Box 351700, Seattle, Washington 98195-1700, United States.
  • Gelb MH; Department of Chemistry, Bagley Hall, University of Washington, Box 351700, Seattle, Washington 98195-1700, United States; Department of Biochemistry, University of Washington, Box 357350, Seattle, WA 98195-7350, United States. Electronic address: gelb@chem.washington.edu.
Mol Genet Metab ; 125(1-2): 59-63, 2018 09.
Article in En | MEDLINE | ID: mdl-30006231
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mucopolysaccharidosis III / Dried Blood Spot Testing / Heparitin Sulfate / Hydrolases Type of study: Diagnostic_studies Limits: Humans / Newborn Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2018 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mucopolysaccharidosis III / Dried Blood Spot Testing / Heparitin Sulfate / Hydrolases Type of study: Diagnostic_studies Limits: Humans / Newborn Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2018 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos