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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 |
The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation A case of combined oxidative phosphorylation deficiency 5 with prenatal onset COXPD6 (Combined Oxidative Phosphorylation Deficiency 6) A Case of Combined Oxidative Phosphorylation Deficiency 35 Associated with a Novel Missense Variant of the <b><i>TRIT1</i></b> Gene The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation Identification and characterization of novel compound variants in SLC25A26 associated with combined oxidative phosphorylation deficiency 28 Vitamin K Deficiency and Oxidative Phosphorylation Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report Kaposi's sarcoma in a patient with acquired immune deficiency syndrome: the first autopsy case report in Canada |