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essential pentosuria
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pentosuria
essential pentosuria
es·sen·tial pen·to·su·ri·a
[MIM*260800]
a benign heritable disorder in which the urinary output of
l
-xylulose is 1-4 g/24 hours; it occurs principally in Ashkenazi Jews; autosomal recessive inheritance.
Synonym(s): l-xylulosuria, primary pentosuria
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更新时间:2024/12/23 14:46:10