Results 91 to 100 of about 4,712 (147)

Periodic fever and mevalonate kinase deficiency

, 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-sterol isoprenoids.
openaire   +1 more source

Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae. [PDF]

Ann Allergy Asthma Immunol, 2018
Dunn K, Pasternak B, Kelsen JR, Sullivan KE, Dawany N, Wright BL.   +5 more
europepmc   +1 more source

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

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

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

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

Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency [PDF]

Pediatr Rheumatol Online J, 2015
Ruiz-Ortiz E, Gonzalez-Roca E, Mensa-Vilaro A, Rius J, Plaza S, Anton C, Calvo I, Modesto C, Anton J, Arnal C, Alvarez C, Alvarez-Coca J, Becerra E, Bilbao N, Camacho M, Crespo J, de Diego C, Diez-Garcia L, Espinosa L, Garcia-Escriva D, de Gracia F, Gonzalez M, Iglesias E, Izquierdo S, Lastra B, Llobet P, Lopez B, Lopez-Gonzalez V, Martinez R, Martin-Mateos M, Merino R, Ortega L, Peiro M, de Soto I, Perez-Mendez C, Rodriguez-Valverde V, Ribes A, Ruiz A, Sanchez B, Santos J, Sevilla B, Sotoca J, Vilas J, Villoria A, Yagüe J, Arostegui J.   +45 more
europepmc   +1 more source

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