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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Dades bibliogràfiques
Publicat a:Rheumatology (Oxford)
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2018
Matèries:
Clinical Science
Accés en línia: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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