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Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report
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 can lead...
Autores principales: | Omoyinmi, Ebun, Rowczenio, Dorota, Sebire, Neil, Brogan, Paul A., Eleftheriou, Despina |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8607720/ https://www.ncbi.nlm.nih.gov/pubmed/34809655 http://dx.doi.org/10.1186/s12969-021-00645-8 |
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