Last data update: Aug 15, 2025. (Total: 49733 publications since 2009)
| Records 1-1 (of 1 Records) |
| Query Trace: Kilgore MB[original query] |
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| Development of a universal second-tier newborn screening LC-MS/MS method for amino acids, lysophosphatidylcholines, and organic acids
Kilgore MB , Platis D , Lim T , Isenberg S , Pickens CA , Cuthbert C , Petritis K . Anal Chem 2023 95 (6) 3187-3194 First-tier MS-based newborn screening by flow injection analysis can have high presumptive positive rates, often due to isomeric/isobaric compounds or poor biomarker specificity. These presumptive positive samples can be analyzed by second-tier screening assays employing separations such as liquid chromatography-mass spectrometry (LC-MS/MS), which increases test specificity and drastically reduces false positive referrals. The ability to screen for multiple disorders in a single multiplexed test simplifies workflows and maximizes public health laboratories' resources. In this study, we developed and validated a highly multiplexed second-tier method for dried blood spots using a hydrophilic interaction liquid chromatography (HILIC) column coupled to an MS/MS system. The LC-MS/MS method was capable of simultaneously detecting second-tier biomarkers for maple syrup urine disease, homocystinuria, methylmalonic acidemia, propionic acidemia, glutaric acidemia type 1, glutaric acidemia type 2, guanidinoacetate methyltransferase deficiency, short-chain acyl-CoA dehydrogenase deficiency, adrenoleukodystrophy, and Pompe disease. |
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