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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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| Publicado no: | Pediatr Rheumatol Online J |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2016
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| Assuntos: | |
| Acesso em linha: | 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 |
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