Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases

BACKGROUND: In the isoprenoid biosynthesis pathway, mevalonate is phosphorylated in 2 subsequent enzyme steps by MVK and PMVK to generate mevalonate pyrophosphate that is further metabolized to produce sterol and nonsterol isoprenoids. Biallelic pathogenic variants in MVK result in the autoinflammat...

Descripción completa

Detalles Bibliográficos
Autores principales: Berner, Jakob, van de Wetering, Cheryl, Jimenez Heredia, Raul, Rashkova, Christina, Ferdinandusse, Sacha, Koster, Janet, Weiss, Johannes G., Frohne, Alexandra, Giuliani, Sarah, Waterham, Hans R., Castanon, Irinka, Brunner, Jürgen, Boztug, Kaan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mosby 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10549927/
https://www.ncbi.nlm.nih.gov/pubmed/37364720
http://dx.doi.org/10.1016/j.jaci.2023.06.013

Ejemplares similares

Ejemplares similares