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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...

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Detalles Bibliográficos
Autores principales: Omoyinmi, Ebun, Rowczenio, Dorota, Sebire, Neil, Brogan, Paul A., Eleftheriou, Despina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
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