Mevalonate kinase-associated diseases (MKAD) are caused by pathogenic mutations in the
mevalonate kinase gene (MVK) and encompass several phenotypically different rare and …

Mevalonate kinase (MK)-associated diseases encompass a broad spectrum of rare auto-
inflammatory conditions, all resulting from pathogenic variants in the mevalonate kinase …

Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder
caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase …

Objective Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by
recurrent inflammatory episodes. This study was undertaken to describe the genotype …

Objectives: Mevalonate kinase deficiency (MKD), a rare autosomal recessive
autoinflammatory syndrome, is caused by disease-causing variants of the mevalonate …

Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory
metabolic disease that is caused by mutations in the MVK gene. Patients with MKD typically …

Background Mevalonate kinase (MVK) plays a role in cholesterol and non-sterol isoprenoid
biosynthesis and its deficiency-related diseases are caused by bi-allelic pathogenic …

Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder
with a spectrum of manifestations, including the well-defined clinical phenotypes of …

Introduction Mevalonate kinase deficiency (MKD) is a monogenic auto-inflammatory
disease. Its manifestations range from partial MKD to mevalonic aciduria (MVA). All patients …

Background Disseminated superficial actinic porokeratosis (DSAP) is a rare autosomal
dominant disease. In our previous research, we found that a linkage region of DSAP in a …