Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure

Pediatric Nephrology

Volumn 20, Issue 12, 2005, Pages 1811-1813

  Cherian, Sarah ^a   Crompton, Charles H ^a  

^a PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

Author keywords

Acute renal failure; Hypoxanthine guanine phosphoribosyltransferase deficiency; Kelley Seegmiller syndrome; Nephrolithiasis; Paediatric

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ACUTE KIDNEY FAILURE; ANAMNESIS; ARTICLE; CASE REPORT; DISEASE COURSE; EARLY DIAGNOSIS; ENZYME DEFICIENCY; FAMILY HISTORY; HEMATURIA; HUMAN; HYPERURICEMIA; LOW BACK PAIN; MALE; NEPHROLITHIASIS; PRIORITY JOURNAL; SCHOOL CHILD; URIC ACID STONE;

AGE OF ONSET; ALLOPURINOL; BUFFERS; CELLS, CULTURED; CHILD; ENZYME INHIBITORS; ERYTHROCYTES; FEMALE; FIBROBLASTS; FOLLOW-UP STUDIES; GREECE; HETEROZYGOTE; HUMANS; HYPERURICEMIA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; KIDNEY FAILURE, ACUTE; LINKAGE (GENETICS); MALE; PEDIGREE; SKIN; SODIUM BICARBONATE; TIME FACTORS; TREATMENT OUTCOME; URINARY CALCULI;

EID: 28444495054     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-005-2065-8     Document Type: Article

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