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
Published in:J Med Biochem
Main Authors: Lampret, Barbka Repič, Murko, Simona, Tanšek, Mojca Žerjav, Podkrajšek, Katarina Trebušak, Debeljak, Maruša, Šmon, Andraž, Battelino, Tadej
Format: Artigo
Language:Inglês
Published: Society of Medical Biochemists of Serbia 2015
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Original Paper
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4922335/
https://ncbi.nlm.nih.gov/pubmed/28356825
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2478/jomb-2014-0056
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