The genotypic and phenotypic spectrum of MTO1 deficiency

O'Byrne, James J.; Tarailo-Graovac, Maja; Ghani, Aisha; Champion, Michael; Deshpande, Charu; Dursun, Ali; Ozgul, Riza K.; Freisinger, Peter; Garber, Ian; Haack, Tobias B.; Horvath, Rita; Baric, Ivo; Husain, Ralf A.; Kluijtmans, Leo A. J.; Kotzaeridou, Urania; Morris, Andrew A.; Ross, Colin J.; Santra, Saikat; Smeitink, Jan; Tarnopolsky, Mark; Wortmann, Saskia B.; Mayer, Johannes A.; Brunner-Krainz, Michaela; Prokisch, Holger; Wasserman, Wyeth W.; Wevers, Ron A.; Engelke, Udo F.; Rodenburg, Richard J.; Ting, Teck Wah; McFarland, Robert; Taylor, Robert W.; Salvarinova, Ramona; van Karnebeek, Clara D. M.

The genotypic and phenotypic spectrum of MTO1 deficiency

Autor(en):

O'Byrne, James J.; Tarailo-Graovac, Maja; Ghani, Aisha; Champion, Michael; Deshpande, Charu; Dursun, Ali; Ozgul, Riza K.; Freisinger, Peter; Garber, Ian; Haack, Tobias B.; Horvath, Rita; Baric, Ivo; Husain, Ralf A.; Kluijtmans, Leo A. J.; Kotzaeridou, Urania; Morris, Andrew A.; Ross, Colin J.; Santra, Saikat; Smeitink, Jan; Tarnopolsky, Mark; Wortmann, Saskia B.; Mayer, Johannes A.; Brunner-Krainz, Michaela; Prokisch, Holger; Wasserman, Wyeth W.; Wevers, Ron A.; Engelke, Udo F.; Rodenburg, Richard J.; Ting, Teck Wah; McFarland, Robert; Taylor, Robert W.; Salvarinova, Ramona; van Karnebeek, Clara D. M.

Tübinger Autor(en):

Haack, Tobias

Erschienen in:

Molecular Genetics and Metabolism (2018), Bd. 123, H. 1, S. 28-42

Verlagsangabe:

Academic Press Inc Elsevier Science

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1016/j.ymgme.2017.11.003

ISSN:

1096-7206