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

Congenital diarrheal disorders: an updated diagnostic approach

TOMAIUOLO, ROSSELLA;PASSARIELLO, ANNALISA;AMATO, FELICE;CASTALDO, GIUSEPPE;BERNI CANANI, ROBERTO
2012

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
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/458029
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