Failure to thrive, hyperuricemia, and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl transferase deficiency
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference9 articles.
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2. A distinct human variant of hypoxanthine-guanine phosphoribosyl transferase;Sweetman;J Pediatr,1978
3. Gout in infancy manifested by renal failure;Rosenthal;Pediatrics,1964
4. A screening test for hyperuricosuria;Stapleton;J Pediatr,1983
5. Hyperuricemia and renal failure: Presenting manifestations of occult hematologic malignancies;Yolken;J Pediatr,1976
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1. Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder;Brain;2013-08-22
2. Urate nephropathy associated with impaired kinetic properties of hypoxanthine phosphoribosyl transferase in a 45-day-old infant;Clinical and Experimental Nephrology;2011-09-09
3. Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn;Pediatric Nephrology;2008-01
4. Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure;Pediatric Nephrology;2007-10-13
5. Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy;European Journal of Pediatrics;2007-09-21
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