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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...
Autores principales: | Lampret, Barbka Repič, Murko, Simona, Tanšek, Mojca Žerjav, Podkrajšek, Katarina Trebušak, Debeljak, Maruša, Šmon, Andraž, Battelino, Tadej |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Society of Medical Biochemists of Serbia
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4922335/ https://www.ncbi.nlm.nih.gov/pubmed/28356825 http://dx.doi.org/10.2478/jomb-2014-0056 |
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