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Published on: August 14, 2013
Pathophysiology of long-term complications in classic galactosemia: What we do and do not know
Judith L Fridovich-Keil1, Gerard T Berry2
1Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Abstract:
Despite many decades of research involving both human subjects and model systems, the underlying pathophysiology of long-term complications in classic galactosemia (CG) remains poorly understood. In this review, intended for those already familiar with galactosemia, we focus on the big questions relating to outcomes, mechanism, and markers, drawing on relevant literature where available, attempting to navigate inconsistencies where they appear, and acknowledging gaps in knowledge where they persist.
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