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Adenine phosphoribosyltransferase deficiency
A rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.
Recurrent urinary tract infections
Repeated infections of the urinary tract.
合計:
0
20
40
60
100
(表示件数)
PMID (PMCID)