Literature DB >> 20981452

Hypochloremic metabolic alkalosis and failure to thrive: answer.

Uwe Querfeld1, Silvia Lechner, Andreas R Janecke.   

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Year:  2010        PMID： 20981452     DOI： 10.1007/s00467-010-1667-y

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  7 in total

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

Authors:  Peter Heinz-Erian; Michaela Oberauer; Nikolaus Neu; Thomas Müller; Sabine Scholl-Bürgi; Josef Hager; Klaus Pittschieler; Andreas R Janecke
Journal:  J Pediatr Gastroenterol Nutr       Date:  2008-09       Impact factor: 2.839

2.  Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.

Authors:  P Höglund; M Auranen; J Socha; K Popinska; H Nazer; U Rajaram; A Al Sanie; M Al-Ghanim; C Holmberg; A de la Chapelle; J Kere
Journal:  Am J Hum Genet       Date:  1998-09       Impact factor: 11.025

3.  Congenital chloride diarrhoea.

Authors:  C Holmberg
Journal:  Clin Gastroenterol       Date:  1986-07

Review 4.  SLC26A3 mutations in congenital chloride diarrhea.

Authors:  Siru Mäkelä; Juha Kere; Christer Holmberg; Pia Höglund
Journal:  Hum Mutat       Date:  2002-12       Impact factor: 4.878

5.  Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.

Authors:  Murim Choi; Ute I Scholl; Weizhen Ji; Tiewen Liu; Irina R Tikhonova; Paul Zumbo; Ahmet Nayir; Ayşin Bakkaloğlu; Seza Ozen; Sami Sanjad; Carol Nelson-Williams; Anita Farhi; Shrikant Mane; Richard P Lifton
Journal:  Proc Natl Acad Sci U S A       Date:  2009-10-27       Impact factor: 11.205

6.  Chloride deficiency as a presentation or complication of cystic fibrosis.

Authors:  A Sojo; J Rodriguez-Soriano; J C Vitoria; C Vazquez; G Ariceta; A Villate
Journal:  Eur J Pediatr       Date:  1994-11       Impact factor: 3.183

Review 7.  Review article: the clinical management of congenital chloride diarrhoea.

Authors:  S Wedenoja; P Höglund; C Holmberg
Journal:  Aliment Pharmacol Ther       Date:  2009-11-11       Impact factor: 8.171
  7 in total

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