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Validation of a targeted metabolomics panel for improved second-tier newborn screening.
Mak, Justin; Peng, Gang; Le, Anthony; Gandotra, Neeru; Enns, Gregory M; Scharfe, Curt; Cowan, Tina M.
Affiliation
  • Mak J; Clinical Biochemical Genetics Laboratory, Stanford Health Care, Stanford, California, USA.
  • Peng G; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Le A; Department of Biostatistics, Yale University School of Public Health, New Haven, Connecticut, USA.
  • Gandotra N; Department of Pathology, Stanford University School of Medicine, Stanford, California, USA.
  • Enns GM; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Scharfe C; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.
  • Cowan TM; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
J Inherit Metab Dis ; 46(2): 194-205, 2023 03.
Article in En | MEDLINE | ID: mdl-36680545
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neonatal Screening / Ornithine Carbamoyltransferase Deficiency Disease Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Humans / Newborn Language: En Journal: J Inherit Metab Dis Year: 2023 Type: Article Affiliation country: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neonatal Screening / Ornithine Carbamoyltransferase Deficiency Disease Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Humans / Newborn Language: En Journal: J Inherit Metab Dis Year: 2023 Type: Article Affiliation country: United States