نتایج جستجو برای: biotinidase deficiency

تعداد نتایج: 137210  

Journal: :Hepatology research : the official journal of the Japan Society of Hepatology 2007
Minnie Faith Chundamannil Eapen Eapen Gnanaiah Wilfred Jeyamani Ramachandran Molly Jacob

Biotinidase is an enzyme synthesized predominantly by the liver. Serum activity of this enzyme has been shown to be low in chronic liver disease. In this study, we endeavored to assess the diagnostic value of serum biotinidase as a marker of hepatic biosynthetic function in acute and chronic liver dysfunction. Twenty-three patients with acute liver disease and 46 with chronic liver disease, as ...

Journal: :Turkish Journal of Dermatology / Türk Dermatoloji Dergisi 2011

Journal: :Child development 2009
David Liu Andrew N Meltzoff Henry M Wellman

Theory of mind requires an understanding of both desires and beliefs. Moreover, children understand desires before beliefs. Little is known about the mechanisms underlying this developmental lag. Additionally, previous neuroimaging and neurophysiological studies have neglected the direct comparison of these developmentally critical mental-state concepts. Event-related brain potentials were reco...

Journal: :ORL; journal for oto-rhino-laryngology and its related specialties 2006
Yildirim A Bayazit Metin Yilmaz

Understanding the genetic basis of hearing loss is important because almost 50% of profound hearing loss are caused by genetic factors and more than 120 independent genes have been identified. In this review, after a brief explanation of some genetic terms (allele, heterozygosis, homozygosis, polymorphism, genotype and phenotype), classification of genetic hearing loss (syndromic versus nonsynd...

Journal: :Child development 2009
David Liu Mark A Sabbagh William J Gehring Henry M Wellman

Young children show significant changes in their mental-state understanding as marked by their performance on false-belief tasks. This study provides evidence for activity in the prefrontal cortex associated with the development of this ability. Event-related brain potentials (ERPs) were recorded as adults (N = 24) and 4-, 5-, and 6-year-old children (N = 44) reasoned about reality and the beli...

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