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SLC26A3 mutation in Turkish neonate and her sibling with congenital chloride diarrhea

Congenital chloride diarrhea is a rare cause of severe infantile diarrhea with excessive chloride excretion. Mutations in the SLC26A3 gene cause congenital chloride diarrhea. It generally becomes apparent in the neonatal period and is characterized by electrolyte imbalances, metabolic alkalosis, and...

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Dettagli Bibliografici
Pubblicato in:Turk Pediatri Ars
Autori principali: Doğan, Erkan, Sevinç, Eylem, Göktaş, Mehmet Akif, Ekmen, Sadrettin, Yıldız, Nihal
Natura: Artigo
Lingua:Inglês
Pubblicazione: Kare Publishing 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7096564/
https://ncbi.nlm.nih.gov/pubmed/32231454
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5152/TurkPediatriArs.2018.6929
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