Associated Papers
Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.
Xie Y et al.
Bmc Medical Genomics, 2025
41257776 (PubMed )
Supplement: 12920_2025_2261_MOESM2_ESM.xlsx › Table_S1__NBS_119set
Exploring genotype-phenotype correlations in glutaric aciduria type 1.
Schuurmans IME et al.
Journal of Inherited Metabolic Disease, 2023
Maternal glutaric acidemia, type I identified by newborn screening.
Crombez EA et al.
Molecular Genetics and Metabolism, 2008
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