Efficacy of Anakinra Treatment in two Moroccan Patients With Mevalonate Kinase Deficiency. [PDF]
Glob Pediatr Health, 2023 Souali M +3 more
europepmc +1 more source
Periodic fever and mevalonate kinase deficiency [PDF]
, 2002 Mevalonate kinase (MK) deficiency is an autosomal recessive disorder, caused by mutations in the MVK-gene on chromosome 12q24. The affected enzyme catalyzes an early step in isoprenoid biosynthesis, the pathway that produces cholesterol and several non ...
Frenkel, Joost
core
Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas
Turkiye Klinikleri Journal of Case Reports, 2022 Temel, Şehime Gülsün +4 more
openaire +2 more sources
Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects. [PDF]
Mol Genet Metab, 2023 de Boer L +6 more
europepmc +1 more source
Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency. [PDF]
J Clin Invest, 2022 Munoz MA +19 more
europepmc +1 more source
Quantification of mevalonic acid in plasma/serum and urine using HPLC-MS/MS
Mevalonsäure ist ein metabolisches Zwischenprodukt der Cholesterinsynthese. Bei den Erkrankungen Mevalonsäureazidurie und HIDS kommt es infolge eines Defekts des Enzyms Mevalonatkinase zu einer Akkumulation der Mevalonsäure im Körper.
Scherr, Verena
core
The challenge of Mevalonate Kinase Deficiency as one of the causes of nonimmune hydrops fetalis
Ginekologia PolskaAleksandra Mikolajczak +1 more
doaj +1 more source
Homozygous V377I mutation causing mevalonate kinase. [PDF]
BMJ Case Rep, 2022 Brito T +3 more
europepmc +1 more source
Cyclic Fevers in Adult Diagnosed As Hyperimmunoglobulin D Syndrome. [PDF]
Cureus, 2022 Reji M, Thapa R.
europepmc +1 more source
Diversion of Acetyl CoA to 3-Methylglutaconic Acid Caused by Discrete Inborn Errors of Metabolism. [PDF]
Metabolites, 2022 Jones DE, Jennings EA, Ryan RO.
europepmc +1 more source