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Congenital diarrheal disorders: an updated diagnostic approach.

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.

SUBMITTER: Terrin G

PROVIDER: S-EPMC3344208 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Congenital diarrheal disorders: an updated diagnostic approach.

Terrin Gianluca G Tomaiuolo Rossella R Passariello Annalisa A Elce Ausilia A Amato Felice F Di Costanzo Margherita M Castaldo Giuseppe G Canani Roberto Berni RB

International journal of molecular sciences 20120329 4

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 ...[more]

PMID: 22605972

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