Associated Papers
Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification.
Gijavanekar C et al.
Current Protocols, 2023
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
Liu N et al.
Jama Network Open, 2021
34251446 (PubMed )
Supplement: jamanetwopen-e2114155-s001.pdf
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.
Donti TR et al.
Molecular Genetics and Metabolism Reports, 2016
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