Results 101 to 110 of about 4,712 (147)

P868: Prenatal findings of mevalonate kinase deficiency in an MVK I268T homozygous fetus

Genetics in Medicine Open
Marek Svoboda, Devin Applebee, Nidhi Shah   +2 more
doaj   +1 more source

PW03-021 - HSCT in mevalonate kinase deficiency [PDF]

Pediatr Rheumatol Online J, 2013
Wolska-Kuśnierz B, Mikołuć B, Motkowski R, Kałwak K, Bernatowska E, Rowczenio D.   +5 more
europepmc   +1 more source

Mevalonate kinase deficiency and neuroinflammation: balance between apoptosis and pyroptosis. [PDF]

Int J Mol Sci, 2013
Tricarico PM, Marcuzzi A, Piscianz E, Monasta L, Crovella S, Kleiner G.   +5 more
europepmc   +1 more source

PW02-020 - Colitis revealing mevalonate kinase deficiency [PDF]

Pediatr Rheumatol Online J, 2013
Michael L, Camille J, Brigitte B.
europepmc   +1 more source

OR11-001 - Protein misfolding in mevalonate kinase deficiency [PDF]

Pediatr Rheumatol Online J, 2013
Stojanov S, Gersting S, Reitzle L, Reiß D, Belohradsky B, Vogeser M, Maier B, Teupser D, Muntau A.   +8 more
europepmc   +1 more source

12.2 Mevalonate kinase deficiency: Impaired isoprenoid synthesis induces IL-1beta production via activation of Rac1

Pediatric Rheumatology Online Journal, 2008
Kuijk LM, Frenkel J, Waterham HR, Koster J, Coffer PJ   +4 more
doaj   +1 more source

Mevalonate kinase somatic mosaicism and bigenic genotypes may explain heterogeneity in mevalonate kinase deficiency [PDF]

Pediatr Rheumatol Online J, 2015
Shinar Y, Hashkes P, Cohen R, Kessel A, Tirosh I, Padeh S, Arostegui J, Livneh A.   +7 more
europepmc   +1 more source

Diagnostic value of urinary mevalonic acid excretion in mevalonate kinase deficiency (MKD) [PDF]

Pediatr Rheumatol Online J, 2014
Jeyaratnam J, Haar N, de Sain-van der Velden M, van Gijn M, Frenkel J.   +4 more
europepmc   +1 more source

Mevalonate kinase deficiency (MKD): long-term follow-up of clinical and biological features in 40 patients

Pediatric Rheumatology Online Journal, 2008
Florkin B, Cuisset L, Acquaviva-Bourdain C, Rabier D, Neven B, Quartier P, Prieur AM   +6 more
doaj   +1 more source

The challenge of Mevalonate Kinase Deficiency as one of the causes of nonimmune hydrops fetalis

Ginekologia Polska
Aleksandra Mikolajczak, Katarzyna Bernat-Sitarz   +1 more
doaj   +1 more source