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Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs.
De Jesús, Víctor R; Adam, Barbara W; Mandel, Daniel; Cuthbert, Carla D; Matern, Dietrich.
Affiliation
  • De Jesús VR; Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA 30341, United States. Electronic address: vdejesus@cdc.gov.
  • Adam BW; Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA 30341, United States.
  • Mandel D; Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA 30341, United States.
  • Cuthbert CD; Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA 30341, United States.
  • Matern D; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, United States; Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, United States; Department of Pediatrics, Mayo Clinic, Rochester, MN 55905, United States.
Mol Genet Metab ; 113(1-2): 67-75, 2014.
Article in En | MEDLINE | ID: mdl-25066104
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neonatal Screening / Tyrosinemias / Heptanoates Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Humans / Newborn Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2014 Document type: Article Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neonatal Screening / Tyrosinemias / Heptanoates Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Humans / Newborn Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2014 Document type: Article Country of publication: United States