Inborn errors of metabolism: a clinical overview

CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins. OBJECTIVES: A clinical review of inborn errors of metabolism (IEM) to give a practical ap...

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Bibliographic Details
Main Author: Ana Maria Martins
Format: Article
Language:English
Published: Associação Paulista de Medicina 1999-11-01
Series:São Paulo Medical Journal
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801999000600006&lng=en&tlng=en