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العنوان
A molecular study of mitochondrial hepatopathies in neonates and infants with liver cell failure /
الناشر
Hala Mohsen Abdulsalam Abdullatif ,
المؤلف
Hala Mohsen Abdulsalam Abdullatif
تاريخ النشر
2015
عدد الصفحات
134 P. :
الفهرس
يوجد فقط 14 صفحة متاحة للعرض العام

from 148

from 148

المستخلص

Acute liver failure (ALF) in neonates and infants is a life threatening disease. Systematic evaluation of the etiology of ALF may help in establishing a diagnosis and thus guiding treatment decisions. To identify the etiological diagnosis of acute liver failure in neonates and infants; in addition to determining the frequency of DGUOK related mitochondrial DNA depletion syndromes. A cross sectional study carried out at Cairo university children{u2019}s hospital from January 2013 to December 2014. All neonates and infants who presented with acute liver failure and cholestasis with early onset liver failure were included. Acyclovir and lactose free formula were started after drawing samples for HSV and galactose - 1- phosphate. Investigations were tailored according to the patient{u2019}s condition. Mitochondrial DNA content and its percent of control were measured. Amplification of coding regions in DGUOK gene was done using high resolution melting analysis technique