Results 91 to 100 of about 28,306 (175)

Isoprenoid biosynthesis and mevalonate kinase deficiency

, 2011
Mevalonaat Kinase Deficiëntie (MKD) is een aangeboren ziekte geassocieerd met heftige koortsaanvallen die drie tot vier dagen aanhouden en gepaard gaan met koude rillingen, gewrichtsklachten, huiduitslag, hoofdpijn, duizeligheid, buikpijn, braken en diarree.
openaire   +2 more sources

Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency. [PDF]

Ann Rheum Dis, 2018
Carapito R, Carapito C, Morlon A, Paul N, Vaca Jacome AS, Alsaleh G, Rolli V, Tahar O, Aouadi I, Rompais M, Delalande F, Pichot A, Georgel P, Messer L, Sibilia J, Cianferani S, Van Dorsselaer A, Bahram S.   +17 more
europepmc   +1 more source

Natural history of mevalonate kinase deficiency: a literature review. [PDF]

Pediatr Rheumatol Online J, 2016
Zhang S.
europepmc   +1 more source

Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra. [PDF]

Pediatr Rheumatol Online J, 2016
Peciuliene S, Burnyte B, Gudaitiene R, Rusoniene S, Drazdiene N, Liubsys A, Utkus A.   +6 more
europepmc   +1 more source

Experience on the long‐term use of canakinumab in mevalonate kinase deficiency: A case series

International Journal of Rheumatic Diseases
F. Burlo, Cristina Tumminelli, S. Pastore, A. Taddio, Martina Girardelli, Alberto Tommasini   +5 more
semanticscholar   +1 more source

Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases. [PDF]

Immunol Cell Biol, 2016
Jurczyluk J, Munoz MA, Skinner OP, Chai RC, Ali N, Palendira U, Quinn JM, Preston A, Tangye SG, Brown AJ, Argent E, Ziegler JB, Mehr S, Rogers MJ.   +13 more
europepmc   +1 more source

Hyper-IgD syndrome/mevalonate kinase deficiency: what is new? [PDF]

Semin Immunopathol, 2015
Mulders-Manders CM, Simon A.
europepmc   +1 more source

Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency. [PDF]

Rheumatol Int, 2016
Nakashimai H, Miyake F, Ohki S, Hattori S, Matsubayashi T, Izawa K, Nishikomori R, Heike T, Honda Y, Shigematsu Y.   +9 more
europepmc   +1 more source

Genetic and phenotypic characteristics of 114 patients with mevalonate kinase deficiency [PDF]

Pediatr Rheumatol Online J, 2015
Jeyaratnam J, ter Haar N, Lachmann H, Simon A, Brogan P, Doglio M, Cattalini M, Anton J, Modesto C, Quartier P, Frenkel J, Gattorno M.   +11 more
europepmc   +1 more source

Mevalonate kinase deficiency: an early onset inflammatory bowel disease? [PDF]

Pediatr Rheumatol Online J, 2015
Martins A, Berrebi D, De Lumley L, Petit B, Pellegrino B, Arion A, Jeanne-Pasquier C, Lequerre T, Pellier I, Guillot M, Faye A, Goullet O, Bader-Meunier B, Melki I.   +13 more
europepmc   +1 more source