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Clinical Genetics|September 7, 2005
Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscleG M Enns, C L Hoppel, S J DeArmond, et al.
Journal of Inherited Metabolic Disease|August 7, 2001
Clinical course and biochemistry of sialuriaG M Enns, R Seppala, T J Musci, et al.
Journal of Inherited Metabolic Disease|August 11, 2004
Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiencyG M Enns, A J Barkovich, A B P van Kuilenburg, et al.
Molecular Genetics and Metabolism|September 4, 2016
Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disordersJ Vockley, J Charrow, J Ganesh, et al.
Molecular Genetics and Metabolism|July 17, 2017
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in CaliforniaN M Gallant, K Leydiker, Y Wilnai, et al.
Human Mutation|January 22, 2008
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinaseD P Dimmock, Q Zhang, C Dionisi-Vici, et al.
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