نتایج جستجو برای: inborn error of metabolism

تعداد نتایج: 21199544  

Journal: :Journal of Clinical Pathology 1967

2008
Vilas Sridharan Dean A. Liberty David R. Kaeli

Over the past several years, reliability research has largely used the following taxonomy of errors: Undetected Errors (sometimes referred to as Silent Data Corruption, or SDC), Detected Uncorrectable Errors (DUE), and Corrected Errors (CE). While this taxonomy is suitable to characterize hardware error detection and correction (EDAC) techniques, it does not provide enough granularity to assess...

2016
Eleonora Parisi Antonio Nicotera Antonella Alagna Gabriella Di Rosa

Early identification of an underlying inborn error of metabolism in newborns with otherwise unexplained seizures may address appropriate disease-specific treatment and provide important tools about the choice of the antiepileptic drugs. Neonatal seizures usually present as prolonged or recurrent, often configuring epileptic status. Striking features of an underlying metabolic disorder include a...

Journal: :Developmental period medicine 2015
Joanna Taybert

Several years ago genetic counseling with the estimation of the risk of the disease in the next pregnancies of the same parents was the only offer for the family with a child with an inborn error of metabolism (IEM). Nowadays diagnostics and treatment of IEM improve. So there are more and more adult patients thinking about having their own offspring. Each woman with IEM who wants to have own ch...

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