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The Journal of Clinical Endocrinology and Metabolism|October 18, 2017
Statins Affect Skeletal Muscle Performance: Evidence for Disturbances in Energy MetabolismNeeltje A E Allard, Tom J J Schirris, Rebecca J Verheggen, et al.
Neurology|February 19, 2024
Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait: A Case Series of 9 ChildrenJamie I Verhoeven, Jasper Kramer, Juergen Seeger, et al.
Molecular Genetics and Metabolism|March 14, 2016
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritisSaikat Santra, Jessie M Cameron, Casper Shyr, et al.
Journal of Inherited Metabolic Disease|December 21, 2014
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disordersWolfgang Sperl, Leanne Fleuren, Peter Freisinger, et al.
American Journal of Human Genetics|July 6, 2010
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defectHana Antonicka, Elsebet Ostergaard, Florin Sasarman, et al.
International Journal of Molecular Sciences|July 13, 2024
Characterisation of an Adult Zebrafish Model for <i>SDHB</i>-Associated Phaeochromocytomas and ParagangliomasJasmijn B Miltenburg, Marnix Gorissen, Inge van Outersterp, et al.
European Journal of Heart Failure|February 28, 2018
Iron deficiency impairs contractility of human cardiomyocytes through decreased mitochondrial functionMartijn F Hoes, Niels Grote Beverborg, J David Kijlstra, et al.
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