Mevalonate kinase deficiency: current perspectives
LA Favier, GS Schulert - The application of clinical genetics, 2016 - Taylor & Francis
Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder
with a spectrum of manifestations, including the well-defined clinical phenotypes of …
with a spectrum of manifestations, including the well-defined clinical phenotypes of …
Current advances in the understanding and treatment of mevalonate kinase deficiency
S Esposito, B Ascolese, L Senatore… - International journal …, 2014 - journals.sagepub.com
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 …
metabolic disease that is caused by mutations in the MVK gene. Patients with MKD typically …
[HTML][HTML] Compromised protein prenylation as pathogenic mechanism in mevalonate kinase deficiency
FA Politiek, HR Waterham - Frontiers in immunology, 2021 - frontiersin.org
Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder
characterized by life-long recurring episodes of fever and inflammation, often without clear …
characterized by life-long recurring episodes of fever and inflammation, often without clear …
[HTML][HTML] Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review
I Touitou - Genes & Diseases, 2022 - Elsevier
Mevalonate kinase (MK)-associated diseases encompass a broad spectrum of rare auto-
inflammatory conditions, all resulting from pathogenic variants in the mevalonate kinase …
inflammatory conditions, all resulting from pathogenic variants in the mevalonate kinase …
Mevalonate kinase deficiency, a metabolic autoinflammatory disease
Mevalonate kinase deficiency is a rare autosomal recessive inborn error of metabolism with
an autoinflammatory phenotype. In this review we discuss its pathogenesis, clinical …
an autoinflammatory phenotype. In this review we discuss its pathogenesis, clinical …
Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency
SHL Mandey, MS Schneiders, J Koster… - Human …, 2006 - Wiley Online Library
Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder
caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase …
caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase …
Defective protein prenylation in a spectrum of patients with mevalonate kinase deficiency
MA Munoz, J Jurczyluk, A Simon, P Hissaria… - Frontiers in …, 2019 - frontiersin.org
The rare autoinflammatory disease mevalonate kinase deficiency (MKD, which includes
HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the MVK gene …
HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the MVK gene …
Neurological manifestations in mevalonate kinase deficiency: A systematic review
Introduction Mevalonate kinase deficiency (MKD) is a monogenic auto-inflammatory
disease. Its manifestations range from partial MKD to mevalonic aciduria (MVA). All patients …
disease. Its manifestations range from partial MKD to mevalonic aciduria (MVA). All patients …
Observational study of a French and Belgian multicenter cohort of 23 patients diagnosed in adulthood with mevalonate kinase deficiency
CA Durel, A Aouba, B Bienvenu, S Deshayes… - Medicine, 2016 - journals.lww.com
Observational Study of a French and Belgian Multicenter Coho... : Medicine Observational
Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With …
Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With …
Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?
CM Mulders-Manders, A Simon - Seminars in immunopathology, 2015 - Springer
Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory
syndrome caused by mutations in the mevalonate kinase gene. In this review, we will …
syndrome caused by mutations in the mevalonate kinase gene. In this review, we will …