Congenital Diarrheal Disorders: An Updated Diagnostic Approach

@inproceedings{Terrin2012CongenitalDD,
  title={Congenital Diarrheal Disorders: An Updated Diagnostic Approach},
  author={Gianluca Terrin and Rossella Tomaiuolo and Annalisa Passariello and Ausilia Elce and Felice Amato and Margherita di Costanzo and Giuseppe Castaldo and Roberto Berni Canani},
  booktitle={International journal of molecular sciences},
  year={2012}
}
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… CONTINUE READING
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