Mevalonate kinase deficiency/Hyperimmunoglobulin D syndrome (MVK/HIDS) in a Differential Diagnosis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Familial Mediterranean Fever (FMF): A Case Report. [PDF]
Turk Arch Pediatr, 2022 Aktaş B +4 more
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The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist. [PDF]
Arthritis Rheumatol, 2022 Romano M +30 more
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Mevalonate Kinase Deficiency as A Cause of Periodic Fever- A Report of Two Cases
JK ScienceMevalonate kinase deficiency (MKD) is an exceedingly rare autosomal recessive inborn metabolism error characterized by mutations in the MVK gene, leading to impaired synthesis of cholesterol and isoprenoids.
Hema Sameera Pinnam +3 more
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Interleukin-1 antagonists in Mevalonate Kinase Deficiency
Pediatric Rheumatology Online Journal, 2011 Hachulla E +7 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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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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Mechanisms of inflammation in mevalonate kinase deficiency
, 2008 nog ...
Kuijk,L.M. +5 more
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HSCT in mevalonate kinase deficiency
Pediatric Rheumatology, 2013 Wolska-Kuśnierz, Beata +3 more
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Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review. [PDF]
Pediatr Rheumatol Online JLi Y, Lu M.
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