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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Pediatr Rheumatol Online J
Autores principales: Peciuliene, Skaiste, Burnyte, Birute, Gudaitiene, Rymanta, Rusoniene, Skirmante, Drazdiene, Nijole, Liubsys, Arunas, Utkus, Algirdas
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4807578/
https://ncbi.nlm.nih.gov/pubmed/27012807
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12969-016-0081-9
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares