[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 …
[HTML][HTML] Mevalonate kinase-associated diseases: hunting for phenotype–genotype correlation
G Boursier, C Rittore, F Milhavet, L Cuisset… - Journal of Clinical …, 2021 - mdpi.com
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 gene (MVK) and encompass several phenotypically different rare and …
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 …
[HTML][HTML] Molecular and cellular consequences of mevalonate kinase deficiency
FA Politiek, M Turkenburg, L Henneman… - … et Biophysica Acta (BBA …, 2024 - Elsevier
Mevalonate kinase deficiency (MKD) is an autosomal recessive metabolic disorder
associated with recurrent autoinflammatory episodes. The disorder is caused by bi-allelic …
associated with recurrent autoinflammatory episodes. The disorder is caused by bi-allelic …
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 …
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 …
Identification of FDA‐approved drugs that increase mevalonate kinase in hyper IgD syndrome
FA Politiek, M Turkenburg, J Koster… - Journal of Inherited …, 2024 - Wiley Online Library
Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder caused by
bi‐allelic loss‐of‐function variants in the MVK gene, resulting in decreased activity of the …
bi‐allelic loss‐of‐function variants in the MVK gene, resulting in decreased activity of the …
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 …
[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 …
GRID2 a novel gene possibly associated with mevalonate kinase deficiency
Mevalonate kinase deficiency (MKD) is a rare autosomal disease caused by mutations in the
mevalonate kinase gene (MVK). The genotype–phenotype correlation is sometimes …
mevalonate kinase gene (MVK). The genotype–phenotype correlation is sometimes …