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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Asıl Yazarlar: Bunn, D N, Moss, I K, Nicholls, A, Scott, J T, Snaith, M L, Watson, M R
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1975
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1006406/
https://ncbi.nlm.nih.gov/pubmed/1155984
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