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The genotypic and phenotypic spectrum of MTO1 deficiency:
O'Byrne, James J
;
Tarailo-Graovac, Maja
;
Ghani, Aisha
...
https://www.repository.cam.ac.uk/handle/1810/290338. , 2018
Link:
https://www.repository.cam.ac.uk/handle/1810/290338
RT Journal T1
The genotypic and phenotypic spectrum of MTO1 deficiency
UL https://suche.suub.uni-bremen.de/peid=base-ftunivcam:oai:www.repository.cam.ac.uk:1810_290338&Exemplar=1&LAN=DE A1 O'Byrne, James J A1 Tarailo-Graovac, Maja A1 Ghani, Aisha A1 Champion, Michael A1 Deshpande, Charu A1 Dursun, Ali A1 Ozgul, Riza K A1 Freisinger, Peter A1 Garber, Ian A1 Haack, Tobias B A1 Horvath, Rita A1 Barić, Ivo A1 Husain, Ralf A A1 Kluijtmans, Leo AJ A1 Kotzaeridou, Urania A1 Morris, Andrew A A1 Ross, Colin J A1 Santra, Saikat A1 Smeitink, Jan A1 Tarnopolsky, Mark A1 Wortmann, Saskia B A1 Mayr, Johannes A A1 Brunner-Krainz, Michaela A1 Prokisch, Holger A1 Wasserman, Wyeth W A1 Wevers, Ron A A1 Engelke, Udo F A1 Rodenburg, Richard J A1 Ting, Teck Wah A1 McFarland, Robert A1 Taylor, Robert W A1 Salvarinova, Ramona A1 van Karnebeek, Clara DM PB Elsevier BV; http://dx.doi.org/10.1016/j.ymgme.2017.11.003; Mol Genet Metab YR 2018 K1 Cardiomyopathy K1 Ketogenic diet K1 Lactic acidosis K1 Mitochondrial disease K1 Mitochondrial translation optimization 1 K1 Oxidative Phosphorylation Defect K1 Adolescent K1 Biopsy K1 Brain K1 Hypertrophic K1 Carrier Proteins K1 Child K1 Preschool K1 Female K1 Frameshift Mutation K1 Hepatic Encephalopathy K1 Humans K1 Infant K1 Newborn K1 Male K1 Metabolism K1 Inborn Errors K1 Mitochondrial Diseases K1 Oxidative Phosphorylation K1 RNA-Binding Proteins JF https://www.repository.cam.ac.uk/handle/1810/290338 LK http://dx.doi.org/https://www.repository.cam.ac.uk/handle/1810/290338 DO https://www.repository.cam.ac.uk/handle/1810/290338 SF ELIB - SuUB Bremen
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