Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency. [electronic resource]
Producer: 19801216Description: 337-41 p. digitalISSN:- 0065-2598
- Adenine -- analogs & derivatives
- Adenine Phosphoribosyltransferase -- deficiency
- Child
- Child, Preschool
- Creatinine -- metabolism
- Female
- Humans
- Kidney -- metabolism
- Kidney Calculi -- metabolism
- Male
- Pentosyltransferases -- deficiency
- Purine-Pyrimidine Metabolism, Inborn Errors -- enzymology
- Uric Acid -- analysis
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Publication Type: Journal Article
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