Llwytho...
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...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , |
|---|---|
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
1983
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1628265/ https://ncbi.nlm.nih.gov/pubmed/6639135 |
| Tagiau: |
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