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The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation
Young A Kim, Yoo-Mi Kim, Yun-Jin Lee, Chong Kun Cheon
Clin Exp Pediatr. 2017;60(12):408-412.   Published online December 22, 2017
DOI: https://doi.org/10.3345/kjp.2017.60.12.408

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The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation
Korean Journal of Pediatrics. 2017;60(12):408   Crossref logo
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The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation
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A case of combined oxidative phosphorylation deficiency 5 with prenatal onset
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COXPD6 (Combined Oxidative Phosphorylation Deficiency 6)
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A Case of Combined Oxidative Phosphorylation Deficiency 35 Associated with a Novel Missense Variant of the TRIT1 Gene
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The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation
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Identification and characterization of novel compound variants in SLC25A26 associated with combined oxidative phosphorylation deficiency 28
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Kaposi's sarcoma in a patient with acquired immune deficiency syndrome: the first autopsy case report in Canada
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Effect of chronic vitamin D deficiency on chick heart mitochondrial oxidative phosphorylation
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A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case
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