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Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause.

Authors
Type
Published Article
Journal
São Paulo medical journal = Revista paulista de medicina
Publication Date
Volume
119
Issue
5
Pages
160–164
Identifiers
PMID: 11723525
Source
Medline
License
Unknown

Abstract

The high positivity observed in the tests reflects the newborn's own metabolic immaturity. The selection of 9% of the studied cases for outpatient follow-up confirms that Inborn Errors of Metabolism must be suspected whenever a patient presents metabolic disturbances or neurological manifestations without a determined cause. They should be researched in parallel with the other diagnostic possibilities and not just taken to be exceptional diagnoses.

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