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Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.
Kubaski, Francyne; Mason, Robert W; Nakatomi, Akiko; Shintaku, Haruo; Xie, Li; van Vlies, Naomi N; Church, Heather; Giugliani, Roberto; Kobayashi, Hironori; Yamaguchi, Seiji; Suzuki, Yasuyuki; Orii, Tadao; Fukao, Toshiyuki; Montaño, Adriana M; Tomatsu, Shunji.
Affiliation
  • Kubaski F; Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, 19899, DE, USA.
  • Mason RW; Department of Biological Sciences, University of Delaware, Newark, DE, USA.
  • Nakatomi A; Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, 19899, DE, USA.
  • Shintaku H; Department of Biological Sciences, University of Delaware, Newark, DE, USA.
  • Xie L; Department of Pediatrics, Nagasaki University, Nagasaki, Japan.
  • van Vlies NN; Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
  • Church H; Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, 19899, DE, USA.
  • Giugliani R; Laboratory Genetic Metabolic Diseases Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Kobayashi H; Willink Biochemical Genetics Unit Regional Genetics Laboratory Genetic Medicine, St Mary's Hospital Manchester, Manchester, UK.
  • Yamaguchi S; Medical Genetics Service, HCPA, Dep. Genetics, UFRGS, and INAGEMP, Porto Alegre, Brazil.
  • Suzuki Y; Department of Pediatrics, Shimane University, Izumo, Japan.
  • Orii T; Department of Pediatrics, Shimane University, Izumo, Japan.
  • Fukao T; Medical Education Development Center, Gifu University, Gifu, Japan.
  • Montaño AM; Department of Pediatrics, Gifu University, Yanagido-1-1, Gifu, 501-1194, Japan.
  • Tomatsu S; Department of Pediatrics, Gifu University, Yanagido-1-1, Gifu, 501-1194, Japan.
J Inherit Metab Dis ; 40(1): 151-158, 2017 01.
Article in En | MEDLINE | ID: mdl-27718145
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mucopolysaccharidoses / Glycosaminoglycans Type of study: Diagnostic_studies / Screening_studies Limits: Humans / Newborn Language: En Journal: J Inherit Metab Dis Year: 2017 Type: Article Affiliation country: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mucopolysaccharidoses / Glycosaminoglycans Type of study: Diagnostic_studies / Screening_studies Limits: Humans / Newborn Language: En Journal: J Inherit Metab Dis Year: 2017 Type: Article Affiliation country: United States