Cyclic Fevers in Adult Diagnosed As Hyperimmunoglobulin D Syndrome. [PDF]
Cureus, 2022 Reji M, Thapa R.
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What General Neurologists Should Know about Autoinflammatory Syndromes? [PDF]
Brain Sci, 2023 de Moraes MPM +5 more
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A Diagnostic Odyssey: Mevalonate Kinase Deficiency Revealed by Genetic Testing in Adulthood. [PDF]
Genes (Basel)Kumar V +2 more
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Homozygous V377I mutation causing mevalonate kinase. [PDF]
BMJ Case Rep, 2022 Brito T +3 more
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Case Report: Clinical application of an <i>in vitro</i> prenylation assay in the diagnosis of an early-onset case of mevalonate kinase deficiency harbouring a novel <i>MVK</i> variant. [PDF]
Front PediatrBurleigh A +7 more
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Diversion of Acetyl CoA to 3-Methylglutaconic Acid Caused by Discrete Inborn Errors of Metabolism. [PDF]
Metabolites, 2022 Jones DE, Jennings EA, Ryan RO.
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Editorial: The role of innate immunity in the pathogenesis of autoimmune and autoinflammatory diseases. [PDF]
Front ImmunolCarmona-Rivera C +3 more
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Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation. [PDF]
J Clin Med, 2021 Boursier G +4 more
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A case of neonatal sweet syndrome associated with mevalonate kinase deficiency. [PDF]
Pediatr Rheumatol Online J, 2023 Irwin M +8 more
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Neonatal Hydrops and Biliary Atresia as an Early Presentation of Mevalonate Kinase Deficiency: A Case Report. [PDF]
CureusAlmomani SA, Ponnambath HIC, Yahya A.
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