Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion

Molecular Genetics and Metabolism

Volumn 90, Issue 2, 2007, Pages 221-223

  van Dael, C M L ^a   Pierik, L J W M ^a   Reijngoud, D J ^a,b   Niezen Koning, K E ^a   van Diggelen, O P ^c   van Spronsen, F J ^a  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Acute renal failure; Hypoxanthine excretion; Partial HGPRT deficiency; Uric acid excretion

Indexed keywords

ALLOPURINOL; BICARBONATE; HYPOXANTHINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; URIC ACID;

ACUTE KIDNEY FAILURE; ADOLESCENT; ARTICLE; BIOCHEMISTRY; CASE REPORT; DIAGNOSTIC VALUE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE; FIBROBLAST; HUMAN; HYPERURICEMIA; HYPERURICOSURIA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; LEUKOCYTE; MALE; MENTAL DEVELOPMENT; PRIORITY JOURNAL; RECURRENT DISEASE; URIC ACID URINE LEVEL; URINARY EXCRETION;

ADOLESCENT; HUMANS; HYPOXANTHINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; KIDNEY FAILURE, ACUTE; MALE; METABOLISM, INBORN ERRORS; REFERENCE VALUES; URIC ACID;

EID: 33846241802     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.10.011     Document Type: Article

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