Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.2.1.31 (beta-glucuronidase)
 7,680 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 3-year-old girl with Bloom syndrome is described. She exhibited stunted growth of prenatal onset and defective immunity, but the typical skin manifestations were absent. Cytogenetic analysis revealed a 46,XX complement, 12.2% of metaphases with at least a structural aberration, and a ten-fold increase in the sister-chromatid exchange rate. Leukocyte beta-glucuronidase activity was reduced to about 1/3; the significance of this finding is not clear. The present observation demonstrates the variable expression of the disorder probably depending on ethnic and constitutional factors.
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PMID:Bloom syndrome in a Mexican mestizo girl. 348 74