نتایج جستجو برای: mitochondrial encephalomyopathy
تعداد نتایج: 132426 فیلتر نتایج به سال:
Over the last 15 years, important research has expanded our knowledge of the clinical, molecular genetic, and biochemical features of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). The characterization of mitochondrial involvement in this disorder and the seminal determination of its genetic cause, have opened new possibilities for more detailed and deeper studies on the pathome...
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.
BACKGROUND Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the gene encoding thymidine phosphorylase (TP). The clinical manifestations of MNGIE are recognizable and homogeneous, but in the early stages, the disease is often misdiagnosed. This study assesses the reliability of biochemical assays to diagnose MNGIE. METHODS We studied 180 patients with cli...
Departamento de Neurologia e Núcleo de Pesquisa Clínica em Neurologia/Neurociências da Universidade Federal Fluminense (NeuroUPC-UFF), Rio de Janeiro, Brazil. Correspondence: Osvaldo J. M. Nascimento; Rua Siqueira Campos 53/1204; 22031-070 Rio de Janeiro RJ Brasil; Email: [email protected] Conflict of interest: There is no conflict of interest to declare. Received 08 September 2011...
Ketogenic Diet used to treat refractory epilepsy for almost a century may represent a treatment option for mitochondrial disorders for which effective treatments are still lacking. Mitochondrial complex I deficiencies are involved in a broad spectrum of inherited diseases including Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes syndrome leading to recurrent cerebral i...
Mitochondrial disorders are a group of highly invalidating human conditions for which effective treatment is currently unavailable and characterized by faulty energy supply due to defective oxidative phosphorylation (OXPHOS). Given the complexity of mitochondrial genetics and biochemistry, mitochondrial inherited diseases may present with a vast range of symptoms, organ involvement, severity, a...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید