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An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome)
Publikováno v:
Clinical Genetics. 4:348-352
This paper describes an adult patient, with gout and without any demonstrable activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HG-PRT). Few of the neurological abnormalities generally associated with severe HG-PRT deficiency wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd150a0b7b8d92800c7caa40cf8a9697
https://doi.org/10.1111/j.1399-0004.1973.tb01930.x
https://doi.org/10.1111/j.1399-0004.1973.tb01930.x
