Ara
Toplam kayıt 158, listelenen: 21-30
Biallelic Hypomorphic Mutations In A Linear Deubiquitinase Define Otulipenia, An Early-Onset Autoinflammatory Disease
(Natl Acad Sciences, 2016)
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding a ...
Biologic Therapy in Primary Systemic Vasculitis of the Young
(Oxford Univ Press, 2009)
Methods. This was a retrospective descriptive case series of children with PSV treated with biologic therapy between February 2002 and November 2007. Primary retrospective outcome assessment measures were: daily corticosteroid ...
Comparison Of The Efficacy Of Once- And Twice-Daily Colchicine Dosage In Pediatric Patients With Familial Mediterranean Fever – A Randomized Controlled Noninferiority Trial
(2016)
Background In this study, we examined the efficacy and safety of a once-daily dosage schema of colchicine compared with a twice-daily dosage schema in pediatric patients with familial Mediterranean fever (FMF). Methods In ...
Early- Onset Stroke and Vasculopathy Associated With Mutations in Ada2
(Massachusetts Medical Soc, 2014)
BackgroundWe observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We ...
Fmf: An Update
(2014)