Literature DB >> 34999984

A Bartter syndrome patient presenting with severe growth retardation: Answers.

Gökçen Erfidan1, Demet Alaygut2, Özgür Özdemir Şimşek3, Seçil Arslansoyu Çamlar2, Fatma Mutlubaş2, Belde Kasap Demir3,4.   

Abstract

Entities:  

Keywords:  Bartter syndrome; Growth retardation; Hypothyroidism; Metabolic alkalosis; Nephropathic cystinosis; Rickets

Mesh：

Year:  2022        PMID： 34999984     DOI： 10.1007/s00467-021-05384-2

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


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  8 in total

Review 1.  Cystinosis.

Authors:  William A Gahl; Jess G Thoene; Jerry A Schneider
Journal:  N Engl J Med       Date:  2002-07-11       Impact factor: 91.245

2.  A patient with cystinosis presenting transient features of Bartter syndrome.

Authors:  Bilal Yildiz; Sultan Durmuş-Aydoğdu; Nurdan Kural; Kismet Bildirici; Hikmet Başmak; Coşkun Yarar
Journal:  Turk J Pediatr       Date:  2006 Jul-Sep       Impact factor: 0.552

3.  Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.

Authors:  Funda Bastug; Hulya Nalcacioglu; Fatih Ozaltin; Emine Korkmaz; Sibel Yel
Journal:  Iran J Kidney Dis       Date:  2018-01       Impact factor: 0.892

Review 4.  Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.

Authors:  W A Gahl; E M Kuehl; F Iwata; A Lindblad; M I Kaiser-Kupfer
Journal:  Mol Genet Metab       Date:  2000 Sep-Oct       Impact factor: 4.797

5.  Bartter syndrome and hypothyroidism masquerading cystinosis in a 3-year-old girl: rare manifestation of a rare disease.

Authors:  Gargi Das; Pamali Mahasweta Nanda; Anupriya Kaur; Rakesh Kumar
Journal:  BMJ Case Rep       Date:  2021-07-26

Review 6.  Cystinosis: a review.

Authors:  Mohamed A Elmonem; Koenraad R Veys; Neveen A Soliman; Maria van Dyck; Lambertus P van den Heuvel; Elena Levtchenko
Journal:  Orphanet J Rare Dis       Date:  2016-04-22       Impact factor: 4.123

Review 7.  Bartter syndrome: causes, diagnosis, and treatment.

Authors:  Tamara da Silva Cunha; Ita Pfeferman Heilberg
Journal:  Int J Nephrol Renovasc Dis       Date:  2018-11-09

Review 8.  Nephropathic cystinosis: an update on genetic conditioning.

Authors:  Rezan Topaloglu
Journal:  Pediatr Nephrol       Date:  2020-06-20       Impact factor: 3.714
  8 in total

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