[HTML][HTML] Putative modifier genes in mevalonate kinase deficiency

A Marcuzzi, D Vozzi, M Girardelli… - Molecular …, 2016 - spandidos-publications.com
Mevalonate kinase deficiency (MKD) is an autosomal recessive auto‑inflammatory disease,
caused by impairment of the mevalonate pathway. Although the molecular mechanism …

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 …

Isolated neurological presentations of mevalonate kinase deficiency

EMM Hoytema van Konijnenburg, E Oussoren… - JIMD …, 2023 - Wiley Online Library
Mevalonate kinase (MK) deficiency is a rare autosomal recessive metabolic disorder caused
by pathogenic variants in the MVK gene with a broad phenotypic spectrum including …

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 …

In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency

C Browne, DJ Timson - Annals of Human Genetics, 2015 - Wiley Online Library
Mevalonate kinase (MVK) catalyses the phosphorylation of mevalonate. Deficiency of MVK
is associated with two rare periodic fever syndromes, mevalonic aciduria (MA), a severe …

[HTML][HTML] 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 …

Genetics of Mevalonate Kinase Deficiency

GS Schulert - eLS, 2017 - Wiley Online Library
Mevalonate kinase deficiency (MKD) represents a spectrum of clinical phenotypes that result
from genetic variants in the MVK gene encoding mevalonate kinase. This spectrum ranges …

[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 …

Evolutionary hypothesis of the mevalonate kinase deficiency

J Vuch, A Marcuzzi, AM Bianco, A Tommasini… - Medical …, 2013 - Elsevier
Mevalonate Kinase Deficiency (MKD) is an autosomal-recessively inherited disorder of
cholesterol biosynthesis with higher prevalence in the Netherlands and other North …

[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 …