Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Clinical and enzymatic studies on two brothers with severe deficiencies of erythrocyte hypoxanthineguanine phosphoribosyltransferase (HGPRTase) are described, and are compared with similar studies of a classical case of the Lesch-Nyhan syndrome from another family. The two brothers have no neurologi...
Guardat en:
| Publicat a: | Ann Rheum Dis |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
1975
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1006406/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1155984/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/ard.34.3.249 |
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