Adenine phosphoribosyltransferase deficiency

Clinical Journal of the American Society of Nephrology

Volumn 7, Issue 9, 2012, Pages 1521-1527

  Bollée, Guillaume ^a   Harambat, Jérôme ^b   Bensman, Albert ^c   Knebelmann, Bertrand ^d   Daudon, Michel ^d   Ceballos Picot, Irène ^e  

^a PARIS CARDIOVASCULAR RESEARCH CENTER   (France)

^b BORDEAUX UNIVERSITY HOSPITAL   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e HÔPITAL TENON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

2,8 DIHYDROXYADENINE; ADENINE PHOSPHORIBOSYLTRANSFERASE; ALLOPURINOL; FEBUXOSTAT;

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; CLINICAL FEATURE; CRYSTALLURIA; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENETICS; HUMAN; KIDNEY DISEASE; KIDNEY FUNCTION; POLYMERASE CHAIN REACTION; PREVALENCE; REVIEW; UROLITHIASIS;

ADENINE; ADENINE PHOSPHORIBOSYLTRANSFERASE; ALLOPURINOL; ANIMALS; BIOLOGICAL MARKERS; DISEASE PROGRESSION; ENZYME INHIBITORS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KIDNEY DISEASES; METABOLISM, INBORN ERRORS; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PROGNOSIS; RECURRENCE; UROLITHIASIS; XANTHINE DEHYDROGENASE;

EID: 84866076817     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.02320312     Document Type: Review

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