Literature DB >> 27534763

A 7-year-old girl presenting with a Bartter-like phenotype: Answers.

Yunsoo Choe1, Eujin Park1, Hye Sun Hyun1, Jung Min Ko1,2, Hee Gyung Kang1,2, Jeong Hun Kim3, Sung-Hye Park4, Hae Il Cheong5,6,7.   

Abstract

Entities:  

Keywords:  Bartter syndrome; Kearns–Sayre syndrome; Mitochondrial DNA deletion; Mitochondrial cytopathy

Mesh：

Year:  2016        PMID： 27534763     DOI： 10.1007/s00467-016-3480-8

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


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  13 in total

1.  Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome.

Authors:  K H Katsanos; M Elisaf; E Bairaktari; E V Tsianos
Journal:  Am J Nephrol       Date:  2001 Mar-Apr       Impact factor: 3.754

Review 2.  Mitochondrial respiratory-chain diseases.

Authors:  Salvatore DiMauro; Eric A Schon
Journal:  N Engl J Med       Date:  2003-06-26       Impact factor: 91.245

3.  Renal sodium handling study in an atypical case of Bartter's syndrome associated with mitochondriopathy and sensorineural blindness.

Authors:  L F Menegon; T N Amaral; José A R Gontijo
Journal:  Ren Fail       Date:  2004-03       Impact factor: 2.606

4.  Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies.

Authors:  M Zeviani; C Gellera; M Pannacci; G Uziel; A Prelle; S Servidei; S DiDonato
Journal:  Ann Neurol       Date:  1990-07       Impact factor: 10.422

5.  Renal pathology in children with mitochondrial diseases.

Authors:  Elena Martín-Hernández; M Teresa García-Silva; Julia Vara; Yolanda Campos; Ana Cabello; Rafael Muley; Pilar Del Hoyo; Miguel Angel Martín; Joaquín Arenas
Journal:  Pediatr Nephrol       Date:  2005-06-24       Impact factor: 3.714

6.  Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome.

Authors:  Y Goto; N Itami; N Kajii; H Tochimaru; M Endo; S Horai
Journal:  J Pediatr       Date:  1990-06       Impact factor: 4.406

7.  Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria.

Authors:  H Matsutani; Y Mizusawa; M Shimoda; F Niimura; A Takeda; M Shimohira; Y Iwakawa
Journal:  Child Nephrol Urol       Date:  1992

Review 8.  Mitochondrial dysfunction in the pathophysiology of renal diseases.

Authors:  Ruochen Che; Yanggang Yuan; Songming Huang; Aihua Zhang
Journal:  Am J Physiol Renal Physiol       Date:  2013-12-04

Review 9.  Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

Authors:  Hannsjörg W Seyberth; Karl P Schlingmann
Journal:  Pediatr Nephrol       Date:  2011-04-19       Impact factor: 3.714

10.  Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

Authors:  Alexander Broomfield; Mary G Sweeney; Cathy E Woodward; Carl Fratter; Andrew M Morris; James V Leonard; Lara Abulhoul; Stephanie Grunewald; Peter T Clayton; Michael G Hanna; Joanna Poulton; Shamima Rahman
Journal:  J Inherit Metab Dis       Date:  2014-10-29       Impact factor: 4.982
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  1 in total

1.  Renal manifestations of primary mitochondrial disorders.

Authors:  Josef Finsterer; Fulvio Alexandre Scorza
Journal:  Biomed Rep       Date:  2017-04-12
  1 in total

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