Results 131 to 140 of about 29,180 (194)

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

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

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