Abstract
Not so long ago, rare inborn errors of metabolism were of interest to only a few perverse types. They were worth studying only for academic one-upmanship or to foster promotion. They were about as exciting to the house staff as tsutsugamushi fever. The primary physician, working his 12-hour day and burdened by "information pollution," shared this view, and most still do. When another rare defect of ganglioside metabolism is reported, one predictable reaction is, "So, what else is new?"This reaction has been tempered somewhat by the practical spinoff generated by the above-mentioned perverse students of the rare. Even though . . .
Published Version
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