Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy.

A month old infant had gout and renal failure caused by hypoxanthine guanine phosphoribosyl transferase (HGPRTase) deficiency. Investigations showed a high uric acid value, crystal nephropathy on ultrasound, and uric acid deposition on renal biopsy. The HGPRTase value was low in red cells and fibrob...

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Bibliografiska uppgifter
Huvudupphovsmän: Holland, P C, Dillon, M J, Pincott, J, Simmonds, H A, Barratt, T M
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1983
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1628265/
https://ncbi.nlm.nih.gov/pubmed/6639135
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