CLINICAL APPROACH TO THE DIAGNOSIS OF INBORN ERRORS OF METABOLISM (IEM)

In this article the authors present: – what are IEMs? – what are the different types of IEMs? – what is the relative frequency of these IEMs? – what is the inheritance pattern of these IEMs? – how can these IEMs be diagnosed in a timely manner? – what is the role of newborn screening (NS) prog...

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Bibliographic Details
Main Author: Andrei Zamfirescu
Format: Article
Language:English
Published: Amaltea Medical Publishing House 2009-06-01
Series:Romanian Journal of Pediatrics
Subjects:
Online Access:https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2009-Nr.2/RJP_2009_2_Art-03.pdf