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Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment

BACKGROUND—Congenital chloride diarrhoea (CLD, OMIM 214700) is a serious inherited defect of intestinal electrolyte absorption transmitted in an autosomal recessive fashion. The major clinical manifestation is diarrhoea with high chloride content which can be balanced by substitution. The molecular...

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Detalhes bibliográficos
Main Authors: Hoglund, P, Holmberg, C, Sherman, P, Kere, J
Formato: Artigo
Idioma:Inglês
Publicado em: 2001
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1728262/
https://ncbi.nlm.nih.gov/pubmed/11302976
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/gut.48.5.724
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