Literature DB >> 18728535

A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea.

Peter Heinz-Erian1, Michaela Oberauer, Nikolaus Neu, Thomas Müller, Sabine Scholl-Bürgi, Josef Hager, Klaus Pittschieler, Andreas R Janecke.   

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Year:  2008        PMID： 18728535     DOI： 10.1097/MPG.0b013e318174e818

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  4 in total

1.  Hypochloremic metabolic alkalosis and failure to thrive: answer.

Authors:  Uwe Querfeld; Silvia Lechner; Andreas R Janecke
Journal:  Pediatr Nephrol       Date:  2010-10-28       Impact factor: 3.714

2.  Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.

Authors:  Jeana Hong; Jeong Kee Seo; Jae Sung Ko; Hae Il Cheong; Jung-Hwan Choi; Jae Hee Lee; Jeong Wan Seo
Journal:  Eur J Pediatr       Date:  2012-12-30       Impact factor: 3.183

3.  Congenital Chloride Diarrhea (CCD): A Case Report of CCD Suspected by Prenatal Ultrasonography and Magnetic Resonance Imaging (MRI).

Authors:  Takakazu Kawamura; Tomizou Nishiguchi
Journal:  Am J Case Rep       Date:  2017-06-24

4.  Congenital chloride diarrhea clinical features and management: a systematic review.

Authors:  Lavinia Di Meglio; Giuseppe Castaldo; Caterina Mosca; Andrea Paonessa; Monica Gelzo; Maria Valeria Esposito; Roberto Berni Canani
Journal:  Pediatr Res       Date:  2020-11-10       Impact factor: 3.756
  4 in total

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