PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Korean Journal of Pediatrics10.3345/kjp.2017.60.12.40820176012408The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigationYoung A Kim, Yoo-Mi Kim, Yun-Jin Lee, Chong Kun Cheonhttps://synapse.koreamed.org/pdf/10.3345/kjp.2017.60.12.408, https://synapse.koreamed.org/DOIx.php?id=10.3345/kjp.2017.60.12.408, http://kjp.or.kr/upload/pdf/kjped-60-408.pdf
Brain and Development10.1016/j.braindev.2020.08.0162021432325-330The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigationSukdong Yoo, Young A. Kim, Ju Young Yoon, Go Hun Seo, Changwon Keum, Chong Kun Cheonhttps://api.elsevier.com/content/article/PII:S0387760420302576?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0387760420302576?httpAccept=text/plain
Molecular Genetics and Metabolism10.1016/s1096-7192(21)00314-02021132S146-S147A case of combined oxidative phosphorylation deficiency 5 with prenatal onsetKristin Levandoski, Manisha Sigdel, Carlos Benito, Debra-Lynn Day-Salvatorehttps://api.elsevier.com/content/article/PII:S1096719221003140?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1096719221003140?httpAccept=text/plain
Encyclopedia of Signaling Molecules10.1007/978-3-319-67199-4_10082220181198-1198COXPD6 (Combined Oxidative Phosphorylation Deficiency 6)http://link.springer.com/content/pdf/10.1007/978-3-319-67199-4_100822
Molecular Syndromology10.1159/00051837320211-7A Case of Combined Oxidative Phosphorylation Deficiency 35 Associated with a Novel Missense Variant of the TRIT1 GeneMiraç Yıldırım, Ömer Bektaş, Ebru Tunçez, Nurşah Yeniay Süt, Yavuz Sayar, Ümmühan Öncül, Serap Teberhttps://www.karger.com/Article/Pdf/518373, https://www.karger.com/Article/Pdf/518373
Yonsei Medical Journal10.3349/ymj.2015.56.1.3002015561300The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular InvestigationChong-Kun Cheon, Gu-Hwan Kim, Han-Wook Yoohttps://synapse.koreamed.org/DOIx.php?id=10.3349/ymj.2015.56.1.300, https://synapse.koreamed.org/pdf/10.3349/ymj.2015.56.1.300, https://eymj.org/DOIx.php?id=10.3349/ymj.2015.56.1.300
Gene10.1016/j.gene.2021.1458912021804145891Identification and characterization of novel compound variants in SLC25A26 associated with combined oxidative phosphorylation deficiency 28Yiming Ji, Shuping Wang, Yiping Cheng, Li Fang, Jiajun Zhao, Ling Gao, Chao Xuhttps://api.elsevier.com/content/article/PII:S0378111921004868?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0378111921004868?httpAccept=text/plain
Clinical Biochemistry10.1016/s0009-9120(84)80247-71984173213Kaposi's sarcoma in a patient with acquired immune deficiency syndrome: the first autopsy case report in CanadaB.Y. Ngan, S. Ritchie, J. Cullenhttps://api.elsevier.com/content/article/PII:S0009912084802477?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0009912084802477?httpAccept=text/plain
Journal of Molecular and Cellular Cardiology10.1016/0022-2828(81)90214-51981132171-183Effect of chronic vitamin D deficiency on chick heart mitochondrial oxidative phosphorylationA Mukherjeehttps://api.elsevier.com/content/article/PII:0022-2828(81)90214-5?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:0022-2828(81)90214-5?httpAccept=text/plain
Clinical Case Reports10.1002/ccr3.10132017581284-1288A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed caseMelike Ersoy, Mehmet Bedir Akyol, Serdar Ceylaner, Nihan Çakır Biçerhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fccr3.1013, https://onlinelibrary.wiley.com/doi/full/10.1002/ccr3.1013