Journal of Inborn Errors of Metabolism and Screening
SciELO · Brazil · Est. 2013
Aims & Scope✦ Inferred from recent articles
This journal focuses on the early detection, diagnosis, and management of inborn errors of metabolism (IEMs) and inherited metabolic disorders. It covers a range of conditions, including those detected through newborn screening programs, and explores their clinical manifestations, genetic underpinnings, and treatment strategies. The scope also includes challenges in diagnosis, the importance of multidisciplinary approaches, and the establishment of population-specific reference intervals for diagnostic accuracy.
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