Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases
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DOI: 10.1002/pd.5878
Abstract: Congenital diarrheal disorders (CDDs) are a group of rare diseases among which some present as inherited disorders of intestinal electrolyte transportation: congenital chloride diarrhea (CCD) and congenital sodium diarrhea (CSD) with prenatal manifestations, mainly polyhydramnios,… read more here.
Keywords: congenital diarrheal; chloride diarrhea; diarrheal disorders; diarrhea ... See more keywords
NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders
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DOI: 10.3390/diagnostics11020262
Abstract: Congenital diarrheal disorders (CDDs) are early-onset enteropathies generally inherited as autosomal recessive traits. Most patients with CDDs require rapid diagnosis as they need immediate and specific therapy to avoid a poor prognosis, but their clinical… read more here.
Keywords: diarrheal; congenital diarrheal; novel mutations; diarrheal disorders ... See more keywords