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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 |
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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  The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation Brain and Development. 2021;43(2):325-330 A case of combined oxidative phosphorylation deficiency 5 with prenatal onset Molecular Genetics and Metabolism. 2021;132:S146-S147 COXPD6 (Combined Oxidative Phosphorylation Deficiency 6) Encyclopedia of Signaling Molecules. 2018;1198-1198 A Case of Combined Oxidative Phosphorylation Deficiency 35 Associated with a Novel Missense Variant of the <b><i>TRIT1</i></b> Gene Molecular Syndromology. 2021;13(2):139-145 The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation Yonsei Medical Journal. 2015;56(1):300 Identification and characterization of novel compound variants in SLC25A26 associated with combined oxidative phosphorylation deficiency 28 Gene. 2021;804:145891 Vitamin K Deficiency and Oxidative Phosphorylation The Journal of Nutrition. 1963;81(1):17-22 Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report BMC Pediatrics. 2022;22(1): Kaposi's sarcoma in a patient with acquired immune deficiency syndrome: the first autopsy case report in Canada Clinical Biochemistry. 1984;17(3):213 |
