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Toplam kayıt 191, listelenen: 21-30
Cotreatment Of Congenital Measles With Vitamin A And Intravenous Immunoglobulin
(2014)
Although the measles vaccine has been part of routine national childhood vaccination programs throughout Europe, measles remains a public health concern. High numbers of cases and outbreaks have occurred throughout the ...
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 ...
Effect of Adipose Tissue-Derived Inflammatory and Proangiogenic Cytokines on Proliferative Diabetic Retinopathy
(Walter De Gruyter Gmbh, 2014)
Objective: To determine the vitreous and serum concentrations of TNF-alpha, IL-6, VEGF, IL-1 beta, IL-8, IL-17, MCP-1, IL-1Ra, IL-10 in patients with proliferative diabetic retinopathy (PDR) and to investigate the effect ...
Fmf: An Update
(2014)
Guanidinoacetate Methyltransferase (Gamt) Deficiency: Outcomes In 48 Individuals And Recommendations For Diagnosis, Treatment And Monitoring
(Academic Press Inc Elsevier Science, 2014)
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as ...
Human Procaspase-1 Variants With Decreased Enzymatic Activity Are Associated With Febrile Episodes And May Contribute To Inflammation Via Rip2 And Nf-Kb Signaling
(Amer Assoc Immunologists, 2014)
The proinflammatory enzyme caspase-1 plays an important role in the innate immune system and is involved in a variety of inflammatory conditions. Rare naturally occurring human variants of the caspase-1 gene (CASP1) lead ...
Cathepsin K Analysis In A Pycnodysostosis Cohort: Demographic, Genotypic And Phenotypic Features
(2014)
Background To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to pediatric endocrinology or dysmorphic features to pediatric ...
Etiology And Outcome Of Hydrops Fetalis: Report Of 62 Cases
(Elsevier Taiwan, 2014)
Aim: We aimed to define the etiologic and prognostic factors in live-born infants with hydrops fetalis (HF) in our tertiary neonatal intensive care unit over a 10-year period. Methods: Medical records of newborn infants ...