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FASTKD2-Related Combined Oxidative Phosphorylation Deficiency.
Patil SJ, Kaur N, Shukla A. Patil SJ, et al. 2025 Dec 4. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2025 Dec 4. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 41343688 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: FASTKD2-related combined oxidative phosphorylation deficiency (FASTKD2-COXPD) is a multisystem disorder that can present from infancy to adulthood with developmental delay with regression that is often triggered by febrile illness an …
CLINICAL CHARACTERISTICS: FASTKD2-related combined oxidative phosphorylation deficiency (FASTKD2-COXPD) is a multisyste …
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency.
Webb BD, Nowinski SM, Solmonson A, Ganesh J, Rodenburg RJ, Leandro J, Evans A, Vu HS, Naidich TP, Gelb BD, DeBerardinis RJ, Rutter J, Houten SM. Webb BD, et al. Elife. 2023 Mar 7;12:e68047. doi: 10.7554/eLife.68047. Elife. 2023. PMID: 36881526 Free PMC article.
This is the first report of a patient with MCAT pathogenic variants and combined oxidative phosphorylation deficiency....
This is the first report of a patient with MCAT pathogenic variants and combined oxidative phosphorylation deficiency.. …
Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review.
Zhang X, Xiang F, Li D, Yang F, Yu S, Wang X. Zhang X, et al. BMC Neurol. 2024 Jan 2;24(1):15. doi: 10.1186/s12883-023-03480-4. BMC Neurol. 2024. PMID: 38166857 Free PMC article. Review.
BACKGROUND: Combined oxidative phosphorylation deficiency (COXPD) is a severe disorder with early onset and autosomal recessive inheritance, and has been divided into 51 types (COXPD1-COXPD51). ...
BACKGROUND: Combined oxidative phosphorylation deficiency (COXPD) is a severe disorder with early onset and autosomal r …
Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene.
Soares MP, Travessa AM, Custódio S, Pereira C, Pinto P, Sousa AB. Soares MP, et al. Endocr Metab Immune Disord Drug Targets. 2024 Jan 12. doi: 10.2174/0118715303283767231120113921. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2024. PMID: 38243972
In 2017, biallelic variants in the MRPS34 gene were shown to cause combined oxidative phosphorylation deficiency type 32 (COPD32) (OMIM#617664); however, only 7 patients have been reported in the literature up to this moment. ...
In 2017, biallelic variants in the MRPS34 gene were shown to cause combined oxidative phosphorylation deficiency type 3 …
Dysfunctional mitochondrial translation and combined oxidative phosphorylation deficiency in a mouse model of hepatoencephalopathy due to Gfm1 mutations.
Molina-Berenguer M, Vila-Julià F, Pérez-Ramos S, Salcedo-Allende MT, Cámara Y, Torres-Torronteras J, Martí R. Molina-Berenguer M, et al. FASEB J. 2022 Jan;36(1):e22091. doi: 10.1096/fj.202100819RRR. FASEB J. 2022. PMID: 34919756
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (COXPD1) is a recessive mitochondrial translation disorder caused by mutations in GFM1, a nuclear gene encoding mitochondrial elongation factor G1 (EFG1). ...Additionally, Gfm1(R …
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (COXPD1) is a recessive mitochondrial …
Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.
Wang J, Li H, Sun M, Yang Y, Yang Q, Liu B, Liu F, Hu W, Zhang Y. Wang J, et al. Front Pediatr. 2020 Dec 2;8:583047. doi: 10.3389/fped.2020.583047. eCollection 2020. Front Pediatr. 2020. PMID: 33344382 Free PMC article.
We demonstrated that a homozygous C1QBP- P.Leu275Phe mutation in an autosomal recessive inherited mode of inheritance caused early onset combined oxidative phosphorylation deficiency 33 (COXPD 33) (OMIM:617713) in two brothers from a Chinese family....
We demonstrated that a homozygous C1QBP- P.Leu275Phe mutation in an autosomal recessive inherited mode of inheritance caused early onset …
Study of novel NARS2 variants in patient of combined oxidative phosphorylation deficiency 24.
Zhang Y, Zhao X, Xu Y, Chen L, Li N, Yao R, Wang X, Wang J, Yu T. Zhang Y, et al. Transl Pediatr. 2022 Apr;11(4):448-457. doi: 10.21037/tp-21-570. Transl Pediatr. 2022. PMID: 35558980 Free PMC article.
Biallelic variants in NARS2 are associated with combined oxidative phosphorylation deficiency 24 (COXPD24) and autosomal recessive deafness-94. ...
Biallelic variants in NARS2 are associated with combined oxidative phosphorylation deficiency 24 (COXPD24) and autosoma …
Phenotypic Delineation of Combined Oxidative Phosphorylation Deficiency-12: Clinical Features of 2 Patients.
Bahar Ister M, Cinar M, Ceylaner S, Uzun OU. Bahar Ister M, et al. Mol Syndromol. 2025 Apr;16(2):180-186. doi: 10.1159/000541501. Epub 2024 Oct 21. Mol Syndromol. 2025. PMID: 40176842 Free PMC article.
INTRODUCTION: Combined oxidative phosphorylation deficiency-12 (COXPD12) is a rare autosomal recessive disorder. ...
INTRODUCTION: Combined oxidative phosphorylation deficiency-12 (COXPD12) is a rare autosomal recessive disorder. ...
128 results