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Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings
Indian Pediatr ; 2020 Feb; 57(2): 180-181
Article | IMSEAR | ID: sea-199488
ABSTRACT
Mevalonate kinase deficiency (MKD) is a rare autosomalrecessive autoinflammatory disease caused by mutations inMVK. We report two siblings with MKD, presenting withrecurrent febrile illnesses, detected to have compoundheterozygous variants in MVK. MKD mimics common pediatricconditions and should be considered as a differential diagnosis.

Texte intégral: Disponible Indice: IMSEAR (Asie du Sud-Est) Texte intégral: Indian Pediatr Année: 2020 Type: Article

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Texte intégral: Disponible Indice: IMSEAR (Asie du Sud-Est) Texte intégral: Indian Pediatr Année: 2020 Type: Article