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 …

Mevalonate kinase deficiency (MKD), a very rare autosomal recessive autoinflammatory
disease with multiple organ involvement, presents clinically as hyperimmunoglobulinemia D …

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

Mevalonate kinase deficiency (MKD) is a rare inborn error of metabolism caused by
mutations in the mevalonate kinase (MVK) gene. The clinical phenotype is variable, ranging …

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

Background Mevalonate kinase deficiency is a metabolic autoinflammatory syndrome
caused by mutations in the MVK gene, mevalonate kinase, the key enzyme in the non-sterol …

Mevalonate kinase deficiency (MKD) is a rare autosomal recessive inborn error of
metabolism with an autoinflammatory phenotype that may be expressed as a spectrum of …

Background: Mevalonate kinase deficiency (MKD) is an inborn error of metabolism leading
to a syndrome characterized by recurrent inflammation. This clinically manifests itself as …

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

OBJECTIVE: The goal of this study was to describe the spectrum of clinical signs of
mevalonate kinase deficiency (MKD). METHODS: This was a retrospective French and …