Associated Papers
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Almontashiri NAM et al.
Scientific Reports, 2020
32523032 (PubMed )
Supplement: 41598_2020_66401_MOESM3_ESM.xlsx › Table_S2
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.
Demirbas D et al.
Molecular Genetics and Metabolism, 2019
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