Literature DB >> 30588546

CoenzymeQ10 therapy in two sisters with CoQ6 mutations with long-term follow-up.

Mustafa Koyun1, Elif Çomak2, Sema Akman2.   

Abstract

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Year:  2018        PMID: 30588546     DOI: 10.1007/s00467-018-4150-9

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


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  2 in total

1.  COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

Authors:  Saskia F Heeringa; Gil Chernin; Moumita Chaki; Weibin Zhou; Alexis J Sloan; Ziming Ji; Letian X Xie; Leonardo Salviati; Toby W Hurd; Virginia Vega-Warner; Paul D Killen; Yehoash Raphael; Shazia Ashraf; Bugsu Ovunc; Dominik S Schoeb; Heather M McLaughlin; Rannar Airik; Christopher N Vlangos; Rasheed Gbadegesin; Bernward Hinkes; Pawaree Saisawat; Eva Trevisson; Mara Doimo; Alberto Casarin; Vanessa Pertegato; Gianpietro Giorgi; Holger Prokisch; Agnès Rötig; Gudrun Nürnberg; Christian Becker; Su Wang; Fatih Ozaltin; Rezan Topaloglu; Aysin Bakkaloglu; Sevcan A Bakkaloglu; Dominik Müller; Antje Beissert; Sevgi Mir; Afig Berdeli; Seza Varpizen; Martin Zenker; Verena Matejas; Carlos Santos-Ocaña; Placido Navas; Takehiro Kusakabe; Andreas Kispert; Sema Akman; Neveen A Soliman; Stefanie Krick; Peter Mundel; Jochen Reiser; Peter Nürnberg; Catherine F Clarke; Roger C Wiggins; Christian Faul; Friedhelm Hildebrandt
Journal:  J Clin Invest       Date:  2011-04-11       Impact factor: 14.808

2.  CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy-a case report.

Authors:  Małgorzata Stańczyk; Irena Bałasz-Chmielewska; Beata Lipska-Ziętkiewicz; Marcin Tkaczyk
Journal:  Pediatr Nephrol       Date:  2018-09-19       Impact factor: 3.714

  2 in total

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