Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra

BACKGROUND: Mevalonate kinase deficiency is a metabolic autoinflammatory syndrome caused by mutations in the MVK gene, mevalonate kinase, the key enzyme in the non-sterol isoprenoid biosynthesis pathway. Two phenotypes of mevalonate kinase deficiency are known based on the level of enzymatic deficie...

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Detalles Bibliográficos
Autores principales: Peciuliene, Skaiste, Burnyte, Birute, Gudaitiene, Rymanta, Rusoniene, Skirmante, Drazdiene, Nijole, Liubsys, Arunas, Utkus, Algirdas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807578/
https://www.ncbi.nlm.nih.gov/pubmed/27012807
http://dx.doi.org/10.1186/s12969-016-0081-9

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