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Natural history of mevalonate kinase deficiency: a literature review
Mevalonate kinase deficiency (MKD), a very rare autosomal recessive autoinflammatory disease with multiple organ involvement, presents clinically as hyperimmunoglobulinemia D syndrome (HIDS), a less severe phenotype and more common form, and mevalonic aciduria (MVA), a more severe phenotype and rare...
Autor principal: | Zhang, Shumin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855321/ https://www.ncbi.nlm.nih.gov/pubmed/27142780 http://dx.doi.org/10.1186/s12969-016-0091-7 |
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