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Mevalonate kinase deficiency: current perspectives

Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of manifestations, including the well-defined clinical phenotypes of hyperimmunoglobulinemia D and periodic fever syndrome and mevalonic aciduria. Patients with MKD have recurrent attacks of hyper...

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Bibliografiske detaljer
Udgivet i:Appl Clin Genet
Main Authors: Favier, Leslie A, Schulert, Grant S
Format: Artigo
Sprog:Inglês
Udgivet: Dove Medical Press 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4959763/
https://ncbi.nlm.nih.gov/pubmed/27499643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S93933
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