Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD.

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Title: Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD.
Authors: Snyder MT; Division of Pediatric Genetics, Department of Pediatrics, University of Virginia, Charlottesville, VA, USA. Electronic address: mts5sd@virginia.edu., Divin K; Texas Children's Hospital, Houston, TX, USA., Liu N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Clinical Diagnostics Lab, Houston, TX, USA., Sun Q; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Clinical Diagnostics Lab, Houston, TX, USA., Wang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Clinical Diagnostics Lab, Houston, TX, USA., Luo X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Clinical Diagnostics Lab, Houston, TX, USA., Ben-Moshe Y; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Burrage LC; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Sutton VR; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Aug; Vol. 145 (4), pp. 109183. Date of Electronic Publication: 2025 Jun 25.
Publication Type: Journal Article
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1096-7206
DOI:10.1016/j.ymgme.2025.109183