Associated Papers
The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
Welsink-Karssies MM et al.
Journal of Inherited Metabolic Disease, 2020
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
Narravula A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Structural and molecular biology of type I galactosemia: disease-associated mutations.
McCorvie TJ et al.
Iubmb Life, 2011
Structure-function analyses of a common mutation in blacks with transferase-deficiency galactosemia.
Lai K et al.
Molecular Genetics and Metabolism, 0
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