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Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea
Congenital chloride diarrhea (CCD) is an autosomal recessive hereditary disease manifested by persistent, watery, profuse diarrhea with high chloride concentration (>90 mmol/L). Postnatally, neonates suffer from hypochloremia, hyponatremia, hypokalemia, metabolic alkalosis, dehydration, developme...
Autores principales: | Wu, Siqi, Han, Jin, Zhang, Yongling, Ye, Zhichao, Lu, Ping, Tian, Kege |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons Australia, Ltd
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899882/ https://www.ncbi.nlm.nih.gov/pubmed/31499577 http://dx.doi.org/10.1111/jog.14089 |
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