Article
Psychosine, a marker of Krabbe phenotype and treatment effect.
Molecular genetics and metabolism - 1 Jul 2017
Escolar M L, Kiely B T, Shawgo E, Hong X, Gelb M H, Orsini J J, Matern D, Poe M D
Abstract excerpt
Newborn screening (NBS) for Krabbe disease, a rare neurodegenerative disorder caused by deficient galactocerebrosidase (GALC) enzyme activity, has recently been implemented in a number of US states. However, the spectrum of phenotypic manifestations associated with deficient GALC activity complicates the management of screen-positive newborns and underscores the need to identify clinically relevant biomarkers....
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