نتایج جستجو برای: deficiency syndrome
تعداد نتایج: 738061 فیلتر نتایج به سال:
Digeorge syndrome is caused by microdeletion of a large region of chromosome 22q11.2 lead to the abnormal development of the third and fourth pharyngeal pouches. This syndrome is characterized by hypoparathyroidism, cellular immune deficiency secondary to thymic hypoplasia, congenital heart disease and dysmorphic facial features. In this case report, we describe a 4month old boy who presented w...
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SyndrĂłm GLUT1 deficiencie je zriedkavĂŠ neurometabolickĂŠ ochorenie mozgu vznikajĂşce pri poruche transportu glukĂłzy cez hematoencefalickĂş bariĂŠru. KeÄĹže mozog takmer Ăşplne zĂĄvislĂ˝ od dodĂĄvky ako hlavnĂŠho zdroja energie a hlavnĂ˝m transportĂŠrom bariĂŠru, klasickĂ˝ typ ochorenia sa prejavuje zĂĄvaĹžnĂ˝mi dĂ´sledkami neuroglykopĂŠnie: vÄasnou neurovĂ˝vojovou encefalopatiou s epilepti...
A 7 year old boy with DeSanctis-Cacchione syndrome - xeroderma pigmentosum, microcephaly, mental deficiency, dwarfism and gonadal hypoplasia - will be presented.
Hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency; complete HPRT deficiency (Lesh-Nyhan Syndrome) presenting with severe neurological or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. We r...
This study proposes a (1)H NMR-based metabonomic approach to explore the biochemical characteristics of Yang deficiency syndrome in hepatocellular carcinoma (HCC) based on serum metabolic profiling. Serum samples from 21 cases of Yang deficiency syndrome HCC patients (YDS-HCC) and 21 cases of non-Yang deficiency syndrome HCC patients (NYDS-HCC) were analyzed using (1)H NMR spectroscopy and part...
OBJECTIVE To explore the characteristics of traditional Chinese medical syndrome (TCM syndrome) of hepatocirrhosis. METHODS Clinical information from the four diagnosis methods of traditional Chinese medicine (TCM) and related laboratorial indexes were systematically collected from 223 hepatocirrhosis cases, and the multi-statistical methods including systematic cluster analysis, principal co...
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