Literature DB >> 31428928

A rare cause of chronic hyponatremia in an infant: Answers.

Gül Yeşiltepe Mutlu1, Mehmet Taşdemir2, Nuray Uslu Kızılkan3, Tülay Güran4, Şükrü Hatun1, Hülya Kayserili5, Ilmay Bilge6.   

Abstract

Entities:  

Keywords:  Failure to thrive; Hyperkalemia; Hyponatremia; Polyuria; Vomiting

Year:  2019        PMID： 31428928     DOI： 10.1007/s00467-019-04337-0

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


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  11 in total

1.  Homozygosity for a mutation in the CYP11B2 gene in an infant with congenital corticosterone methyl oxidase deficiency type II.

Authors:  Casper L Jessen; Jane H Christensen; Niels H Birkebaek; Soren Rittig
Journal:  Acta Paediatr       Date:  2012-11       Impact factor: 2.299

2.  Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses.

Authors:  Huy-Hoang Nguyen; Frank Hannemann; Michaela F Hartmann; Ewa M Malunowicz; Stefan A Wudy; Rita Bernhardt
Journal:  Mol Genet Metab       Date:  2010-05-21       Impact factor: 4.797

3.  Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene.

Authors:  M Wasniewska; F De Luca; M Valenzise; F Lombardo; F De Luca
Journal:  Eur J Endocrinol       Date:  2001-01       Impact factor: 6.664

4.  Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study.

Authors:  Mehmet Tunca; Servet Akar; Fatos Onen; Huri Ozdogan; Ozgur Kasapcopur; Fatos Yalcinkaya; Ercan Tutar; Seza Ozen; Rezan Topaloglu; Engin Yilmaz; Mustafa Arici; Aysin Bakkaloglu; Nesrin Besbas; Tekin Akpolat; Ayhan Dinc; Eren Erken
Journal:  Medicine (Baltimore)       Date:  2005-01       Impact factor: 1.889

Review 5.  Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies.

Authors:  M Peter; K Bünger; S L Drop; W G Sippell
Journal:  Eur J Endocrinol       Date:  1998-07       Impact factor: 6.664

Review 6.  Aldosterone synthase deficiency and related disorders.

Authors:  Perrin C White
Journal:  Mol Cell Endocrinol       Date:  2004-03-31       Impact factor: 4.102

Review 7.  Central adrenal insufficiency in children and adolescents.

Authors:  Giuseppa Patti; Chiara Guzzeti; Natascia Di Iorgi; Anna Elsa Maria Allegri; Flavia Napoli; Sandro Loche; Mohamad Maghnie
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2018-04-10       Impact factor: 4.690

8.  A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency.

Authors:  Kristian Løvås; Ian McFarlane; Huy-Hoang Nguyen; Suzanne Curran; John Schwabe; David Halsall; Rita Bernhardt; A Michael Wallace; V Krishna K Chatterjee
Journal:  J Clin Endocrinol Metab       Date:  2008-12-30       Impact factor: 5.958

9.  Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency.

Authors:  G Zhang; H Rodriguez; C E Fardella; D A Harris; W L Miller
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

Review 10.  Congenital adrenal hyperplasia.

Authors:  Diala El-Maouche; Wiebke Arlt; Deborah P Merke
Journal:  Lancet       Date:  2017-05-30       Impact factor: 79.321
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