Literature DB >> 25778942

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.

Martin Magner1, Veronika Dvorakova, Marketa Tesarova, Stella Mazurova, Hana Hansikova, Martin Zahorec, Katarina Brennerova, Vladimir Bzduch, Ronen Spiegel, Yoseph Horovitz, Hanna Mandel, Fatma Tuba Eminoğlu, Johannes Adalbert Mayr, Johannes Koch, Diego Martinelli, Enrico Bertini, Vassiliki Konstantopoulou, Joél Smet, Shamima Rahman, Alexander Broomfield, Vesna Stojanović, Carlo Dionisi-Vici, Rudy van Coster, Eva Morava, Wolfgang Sperl, Jiri Zeman, Tomas Honzik.   

Abstract

Entities:  

Year:  2015        PMID： 25778942     DOI： 10.1007/s10545-015-9833-9

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C.

Authors:  Veronika Dvorakova; Martin Magner; Tomas Honzik
Journal:  Mol Genet Metab Rep       Date:  2014-12-18

2.  Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.

Authors:  Monika Oláhová; Kyle Thompson; Steven A Hardy; Inês A Barbosa; Arnaud Besse; Maria-Eleni Anagnostou; Kathryn White; Tracey Davey; Michael A Simpson; Michael Champion; Greg Enns; Susan Schelley; Robert N Lightowlers; Zofia M A Chrzanowska-Lightowlers; Robert McFarland; Charu Deshpande; Penelope E Bonnen; Robert W Taylor
Journal:  J Inherit Metab Dis       Date:  2016-09-30       Impact factor: 4.982

3.  Mitochondrial stress response triggered by defects in protein synthesis quality control.

Authors:  Uwe Richter; Kah Ying Ng; Fumi Suomi; Paula Marttinen; Taina Turunen; Christopher Jackson; Anu Suomalainen; Helena Vihinen; Eija Jokitalo; Tuula A Nyman; Marita A Isokallio; James B Stewart; Cecilia Mancini; Alfredo Brusco; Sara Seneca; Anne Lombès; Robert W Taylor; Brendan J Battersby
Journal:  Life Sci Alliance       Date:  2019-01-25
  3 in total

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