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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Dades bibliogràfiques
Publicat a:CEN Case Rep
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Springer Singapore 2020
Matèries:
Case Report
Accés en línia: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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