The article offers information on haematological abnormalities in children with inborn errors
of metabolism. It is mentioned that symptoms and signs are caused by something other than …

The inborn errors of Metabolism (IEM) are significantly interrelated with genetic
abnormalities from carrier parents to their children. Physical and mental symptoms of IEM …

We aimed to evaluate the neonates diagnosed as IEM in our neonatal intensive care unit
and their outcomes. Among 2994 neonates hospitalized, 51 were diagnosed as IEM (1.7%) …

Introduction: Among the most advanced public health promotion and disease prevention
programs, the newborn screening is of paramount importance, seeking timely detection …

Background: Inborn errors of metabolism (IEM) have greater repercussions in neonatology
units. The goal of our study was to evaluate the impact of IEM in a neonatology unit and the …

Inborn errors of metabolism (IEMs) are a group of disorders each of which results from
deficient activity of a single enzyme in a metabolic pathway. Although IEMs are individually …

Recent advances in the diagnosis and treatment of inborn errors of metabolism have
improved substantially the prognosis of many of these diseases, if diagnosed early enough …

Background Inborn errors of metabolism (IEM) are genetic disorders caused by
incompetence in enzymatic reactions of intermediary metabolism due to an insufficient …

Lucrarea însumează un scurt reviu al literaturii asupra domeniului erorilor înnăscute de
metabolism (EIM), care se prezintă în număr peste 1000 de EIM din cele peste 6000-8000 …