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MDPI, International Journal of Molecular Sciences, 4(13), p. 4168-4185, 2012

DOI: 10.3390/ijms13044168

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Congenital Diarrheal Disorders: An Updated Diagnostic Approach

Journal article published in 2012 by Gianluca Terrin, Rossella Tomaiuolo ORCID, Annalisa Passariello, Ausilia Elce ORCID, Felice Amato, Margherita Di Costanzo, Giuseppe Castaldo ORCID, Roberto Berni Canani
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Congenital diarrheal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life. Infants with these disorders have frequently chronic diarrhea of sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on the basis of the genetic defect, focusing on the significant contribution of molecular analysis in the complex, multistep diagnostic work-up.