Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report
Abstract Background Mevalonate kinase deficiency (MKD) is a rare autoinflammatory condition caused by biallelic loss-of-function (LOF) mutations in mevalonate kinase (MVK) gene encoding the enzyme mevalonate kinase. Patients with MKD display a variety of non-specific clinical manifestations, which c...
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Autores principales: | Ebun Omoyinmi, Dorota Rowczenio, Neil Sebire, Paul A. Brogan, Despina Eleftheriou |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
BMC
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/6526b0dfe00b45159b766f0e2519ef01 |
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