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 / G., Terrin; Tomaiuolo, Rossella; Passariello, Annalisa; A., Elce; Amato, Felice; M., Di Costanzo; Castaldo, Giuseppe; BERNI CANANI, Roberto. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1422-0067. - 13:4(2012), pp. 4168-4185. [10.3390/ijms13044168]
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| File | Dimensione | Formato | |
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