Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.

Peng, Gang; Tang, Yishuo; Gandotra, Neeru; Enns, Gregory M; Cowan, Tina M; Zhao, Hongyu; Scharfe, Curt

Peng, Gang; Tang, Yishuo; Gandotra, Neeru; Enns, Gregory M; Cowan, Tina M; Zhao, Hongyu; Scharfe, Curt.

Affiliation

Peng G; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Tang Y; Department of Biostatistics, Yale University School of Public Health, New Haven, Connecticut, USA.
Gandotra N; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Enns GM; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Cowan TM; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.
Zhao H; Department of Pathology, Stanford University School of Medicine, Stanford, California, USA.
Scharfe C; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.

J Inherit Metab Dis ; 43(5): 934-943, 2020 09.

Article in En | MEDLINE | ID: mdl-32216101

Subject(s)

Amino Acid Metabolism, Inborn Errors/diagnosis; Congenital Bone Marrow Failure Syndromes/diagnosis; Ethnicity/statistics & numerical data; Lipid Metabolism, Inborn Errors/diagnosis; Mitochondrial Diseases/diagnosis; Muscular Diseases/diagnosis; Neonatal Screening/methods; Ornithine Carbamoyltransferase Deficiency Disease/diagnosis; Acyl-CoA Dehydrogenase, Long-Chain/blood; Amino Acid Metabolism, Inborn Errors/blood; Biomarkers/blood; Brain Diseases, Metabolic/blood; California; Congenital Bone Marrow Failure Syndromes/blood; False Positive Reactions; Female; Gestational Age; Glutaryl-CoA Dehydrogenase/blood; Glutaryl-CoA Dehydrogenase/deficiency; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors/blood; Male; Mitochondrial Diseases/blood; Muscular Diseases/blood; Ornithine Carbamoyltransferase Deficiency Disease/blood; Tandem Mass Spectrometry

Key words

inborn metabolic disorders; informatics and statistics; newborn screening; paediatric clinical chemistry; racial/ethnic-disparities

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ethnicity / Neonatal Screening / Ornithine Carbamoyltransferase Deficiency Disease / Mitochondrial Diseases / Congenital Bone Marrow Failure Syndromes / Amino Acid Metabolism, Inborn Errors / Lipid Metabolism, Inborn Errors / Muscular Diseases Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Female / Humans / Male / Newborn Country/Region as subject: America do norte Language: En Journal: J Inherit Metab Dis Year: 2020 Type: Article Affiliation country: United States

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