合計: 1 |
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PMID (PMCID) | ||
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24470648 |
FEMALE | Infant |
Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease. | ||
Thors VS, Vastert SJ, Wulffraat N, van Royen A, Frenkel J, de Sain-van der Velden M, de Koning TJ. Pediatrics. 2014;133(2):e461-5. |
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Mevalonate kinase deficiency (MKD) is a rare autosomal recessive disorder causing 1 of 2 phenotypes, hyperimmunoglobulin D syndrome and mevalonic aciduria, presenting with recurrent fever episodes, often starting in infancy, and sometimes evoked by stress or vaccinations. |