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...

Full description

Saved in:
Bibliographic Details
Main Authors: Holland, P C, Dillon, M J, Pincott, J, Simmonds, H A, Barratt, T M
Format: Artigo
Language:Inglês
Published: 1983
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1628265/
https://ncbi.nlm.nih.gov/pubmed/6639135
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items