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The genotypic and phenotypic spectrum of MTO1 deficiency

Lookup NU author(s): Professor Rita HorvathORCiD, Professor Bobby McFarlandORCiD, Professor Robert Taylor

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Author(s): O'Byrne JJ, Tarailo-Graovac M, Ghania A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Baric I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM

Publication type: Article

Publication status: Published

Journal: Molecular Genetics and Metabolism

Year: 2018

Volume: 123

Issue: 1

Pages: 28-42

Print publication date: 01/01/2018

Online publication date: 15/11/2017

Acceptance date: 11/11/2017

Date deposited: 18/05/2018

ISSN (print): 1096-7192

ISSN (electronic): 1096-7206

Publisher: Elsevier

URL: https://doi.org/10.1016/j.ymgme.2017.11.003

DOI: 10.1016/j.ymgme.2017.11.003

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