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Results: 6

Cited In for PubMed (Select 20199192)


Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.

Al-Haggar M.

World J Nephrol. 2013 Nov 6;2(4):94-102. doi: 10.5527/wjn.v2.i4.94.


A patient with cystinosis presenting like bartter syndrome and review of literature.

Ertan P, Evrengul H, Ozen S, Emre S.

Iran J Pediatr. 2012 Dec;22(4):543-6.


Primary molecular disorders and secondary biological adaptations in bartter syndrome.

Deschênes G, Fila M.

Int J Nephrol. 2011;2011:396209. doi: 10.4061/2011/396209. Epub 2011 Sep 20.


Cystinosis presenting with findings of Bartter syndrome.

Özkan B, Çayır A, Koşan C, Alp H.

J Clin Res Pediatr Endocrinol. 2011;3(2):101-4. doi: 10.4274/jcrpe.v3i2.21. Epub 2011 Jun 8.


Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

Seyberth HW, Schlingmann KP.

Pediatr Nephrol. 2011 Oct;26(10):1789-802. doi: 10.1007/s00467-011-1871-4. Epub 2011 Apr 19. Review.


Cystinosis: practical tools for diagnosis and treatment.

Wilmer MJ, Schoeber JP, van den Heuvel LP, Levtchenko EN.

Pediatr Nephrol. 2011 Feb;26(2):205-15. doi: 10.1007/s00467-010-1627-6. Epub 2010 Aug 24. Review.

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