Associated Papers
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
Boyle L et al.
American Journal of Human Genetics, 2016
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Shayota BJ et al.
Molecular Genetics and Metabolism, 0
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