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机译:Rapidly progressive kidney dysfunction and crystal casts associated with adenine phosphoribosyltransferase (APRT) deficiency-lessons for the clinical nephrologist
Kanazawa Med Univ, Dept Urol, Kahoku, Ishikawa, Japan;
Kanazawa Med Univ Hosp, Ctr Clin Genom, Kahoku, Ishikawa, Japan;
Kanazawa Med Univ, Sch Med, Dept Nephrol, 1-1 Daigaku, Kahoku, Ishikawa 9200293, Japan;
Phosphoribosyltransferase (APRT) deficiency; 2; 8-Dihydroxyadenine; Novel mutation; XDH inhibitor;