Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots
Article in Frontiers in Molecular Biosciences (April 2023)
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The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes
Article in Molecular Genetics and Metabolism (January 2020)
Chapter 59 Disorders of galactose metabolism
Book chapter (January 2020)