Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: A case report and review of the literature-Reference-Cited by-同舟云学术

Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: A case report and review of the literature

Published:2012-07 Issue:7 Volume:61 Page:922-930
ISSN:0026-0495
Container-title:Metabolism
language:en
Short-container-title:Metabolism

Author:

Neocleous Vassos,Skordis Nicos,Shammas Christos,Efstathiou Elisavet,Mastroyiannopoulos Nikolaos P.,Phylactou Leonidas A.

Funder

A.G. Leventis Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference61 articles.

1. Diabetes insipidus: diagnosis and treatment of a complex disease;Makaryus;Cleve Clin J Med,2006

2. Language guiding therapy: the case of dehydration versus volume depletion;Mange;Ann Intern Med,1997

3. Hypernatremia;Adrogue;N Engl J Med,2000

4. Nephrogenic diabetes insipidus;Bichet;Semin Nephrol,1994

5. Nephrogenic diabetes insipidus;Bichet;Am J Med,1998

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