Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females

OBJECTIVES: Phosphoribosylpyrophosphate synthetase (PRPS1) superactivity is an X-linked disorder characterized by urate overproduction Online Mendelian Inheritance in Man (OMIM) gene reference 300661. This condition is thought to rarely affect women, and when it does, the clinical presentation is mi...

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Detalhes bibliográficos
Publicado no:Rheumatology (Oxford)
Main Authors: Zikánová, Marie, Wahezi, Dawn, Hay, Arielle, Stibůrková, Blanka, Pitts, Charles, Mušálková, Dita, Škopová, Václava, Barešová, Veronika, Součková, Olga, Hodaňová, Kateřina, Živná, Martina, Stránecký, Viktor, Hartmannová, Hana, Hnízda, Ales, Bleyer, Anthony J, Kmoch, Stanislav
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
Assuntos:
Clinical Science
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6232955/
https://ncbi.nlm.nih.gov/pubmed/30423175
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/rheumatology/key041
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