Selective screening for metabolic disorders in the Slovenian pediatric population

Background: Inborn errors of metabolism (IEM) are disorders with a block in the metabolic pathway caused by a genetic defect of a specific enzyme. Although each of these diseases is quite rare, as a group they account for a significant proportion of newborn and childhood morbidity and mortality. Ear...

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Bibliographic Details
Main Authors: Repič-Lampret Barbka, Murko Simona, Žerjav-Tanšek Mojca, Trebušak-Podkrajšek Katarina, Debeljak Maruša, Šmon Andraž, Battelino Tadej
Format: Article
Language:English
Published: Society of Medical Biochemists of Serbia, Belgrade 2015-01-01
Series:Journal of Medical Biochemistry
Subjects:
Online Access:https://scindeks-clanci.ceon.rs/data/pdf/1452-8258/2015/1452-82581501058R.pdf