Rapid and efficient LC-MS/MS diagnosis of inherited metabolic disorders: a semi-automated workflow for analysis of organic acids, acylglycines, and acylcarnitines in urine
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Title
Rapid and efficient LC-MS/MS diagnosis of inherited metabolic disorders: a semi-automated workflow for analysis of organic acids, acylglycines, and acylcarnitines in urine
Authors
Keywords
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Journal
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
Volume -, Issue -, Pages -
Publisher
Walter de Gruyter GmbH
Online
2023-05-20
DOI
10.1515/cclm-2023-0084
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- HMDB 5.0: the Human Metabolome Database for 2022
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- NMR-based newborn urine screening for optimized detection of inherited errors of metabolism
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- Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism
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- Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
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- Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels
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- OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
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