QR kód

LESCH-NYHAN SYNDROME – late diagnosis of rare disease: clinical case

Background. Lesch-Nyhan syndrome is inherent X-linked recessive genetic disorder with decreased activity of hypoxanthine-guanine phosphoribosyltransferase (HGPRT). The disease is characterized by presence of the classical triad: hyperuricemia, neurological and behavioral changes. In the article we p...

Celý popis

Uloženo v:
Hlavní autoři: Oleksii Khaniukov, Valerii Chornyi, Ihor Yevstihnieiev, Ihor Hutnik, Oleksandra Smolianova, Nataliia Romuz, Kateryna Esterkina, Kateryna Pervieieva
Médium: Artigo
Jazyk:Inglês
Vydáno: V. N. Karazin Kharkiv National University 2021-02-01
Edice:Journal of V. N. Karazin Kharkiv National University: Series Medicine
Témata:
lesch-nyhan syndrome
hyperuricemia
primary gout
clinical case
On-line přístup:https://periodicals.karazin.ua/medicine/article/view/16891
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Podobné jednotky