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Toplam kayıt 468, listelenen: 461-468
A Cross Section of Autosomal Recessive Limb-Girdle Muscular Dystrophies In 38 Families
(BMJ, 2000)
Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci ...
Mefv Mutations In Systemic Onset Juvenile Idiopathic Arthritis
(Oxford Univ Press, 2009)
Objectives. Autoinflammatory diseases constitute a large spectrum of monogenic diseases like FMF or cryopyrin-associated periodic
syndromes (CAPS) and complex genetic trait diseases such as systemic onset juvenile idiopathic ...
Serum Erythropoietin Levels In Pediatric Hematologic Disorders And Impact Of Recombinant Human Erythropoietin Use
(Galenos Yayıncılık, 2009)
Objective: In anemic patients, the correlation between serum erythropoietin (sEpo) level and the severity of anemia has been reported previously. However. in different anemia groups, different sEpo levels are measured in ...
Retrospective Evaluation of Patients Treated with Dasatinib For Philadelphia Positive Leukemias: Turkish Experience of 16 Months
(Akad Doktorlar Yayınevi, 2009)
This retrospective study was conducted on 114 CML patients with a mean treatment duration of 7.94 +/- 4.53 months. Disease status distribution among patients was 78.1% in chronic, 7.9% in accelerated, 14% in blastic phases. ...
Eular Evidence-Based Recommendations For The Diagnosis Of Hand Osteoarthritis: Report Of A Task Force Of Escisit
(BMJ, 2009)
Objectives: To develop evidence-based recommendations for the diagnosis of hand osteoarthritis (OA). Methods: The multidisciplinary guideline development group, representing 15 European countries, generated 10 key propositions ...
Giant Axonal Neuropathy: Clinical And Genetic Study In Six Cases
(BMJ, 2005)
Background: Giant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central nervous system (CNS) involvement, and "frizzly'' hair. The ...
Gastrointestinal Involvement In Poems Syndrome: A Novel Clinical Manifestation
(BMJ, 2005)
POEMS syndrome ( polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) is characterised by a rare multisystem disorder of unknown pathogenesis. Although its pathophysiology is not well ...