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...

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Pubblicato in:	Ann Rheum Dis
Autori principali:	Bunn, D N, Moss, I K, Nicholls, A, Scott, J T, Snaith, M L, Watson, M R
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMJ Publishing Group 1975
Soggetti:	Research Article
Accesso online:	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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