HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout

Unlike complete deficiency of hypoxanthine phosphoribosyltransferase (HPRT) (i.e., Lesch–Nyhan syndrome), partial HPRT deficiency causes HPRT-related hyperuricemia without neurological symptoms. Herein, we describe a 22-year-old man without neurological symptoms that presented gout, hyperuricemia (s...

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Библиографические подробности
Опубликовано в: :CEN Case Rep
Главные авторы: Mishima, Eikan, Mori, Takayasu, Nakajima, Yoko, Toyohara, Takafumi, Kikuchi, Koichi, Oikawa, Yoshitsugu, Matsuhashi, Tetsuro, Maeda, Yasuhiro, Suzuki, Takehiro, Kudo, Masataka, Ito, Sadayoshi, Sohara, Eisei, Uchida, Shinichi, Abe, Takaaki
Формат: Artigo
Язык:Inglês
Опубликовано: Springer Singapore 2020
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7320122/
https://ncbi.nlm.nih.gov/pubmed/32128695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-020-00459-9
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