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...

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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

Internet

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

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