Eftekharian SS - Search Results

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Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.

Simon MT, Eftekharian SS, Stover AE, Osborne AF, Braffman BH, Chang RC, Wang RY, Steenari MR, Tang S, Hwu PW, Taft RJ, Benke PJ, Abdenur JE. Simon MT, et al. Among authors: eftekharian ss. Mol Genet Metab. 2019 Jan;126(1):53-63. doi: 10.1016/j.ymgme.2018.11.001. Epub 2018 Nov 8. Mol Genet Metab. 2019. PMID: 30473481 Free PMC article.

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.

Boyer M, Sowa M, Di Meo I, Eftekharian S, Steenari MR, Tiranti V, Abdenur JE. Boyer M, et al. Mol Genet Metab. 2018 May;124(1):57-63. doi: 10.1016/j.ymgme.2018.02.008. Epub 2018 Feb 14. Mol Genet Metab. 2018. PMID: 29526615

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.

Stiles AR, Simon MT, Stover A, Eftekharian S, Khanlou N, Wang HL, Magaki S, Lee H, Partynski K, Dorrani N, Chang R, Martinez-Agosto JA, Abdenur JE. Stiles AR, et al. Mol Genet Metab. 2016 Sep;119(1-2):91-9. doi: 10.1016/j.ymgme.2016.07.001. Epub 2016 Jul 4. Mol Genet Metab. 2016. PMID: 27448789

ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.

Simon MT, Eftekharian SS, Ferdinandusse S, Tang S, Naseri T, Reupena MS, McGarvey ST, Minster RL, Weeks DE; Samoan Obesity, Lifestyle, and Genetic Adaptations (OLaGA) Study Group; Nguyen DD, Lee S, Ellsworth KA, Vaz FM, Dimmock D, Pitt J, Abdenur JE. Simon MT, et al. Among authors: eftekharian ss. Am J Med Genet A. 2021 Jan;185(1):157-167. doi: 10.1002/ajmg.a.61936. Epub 2020 Oct 28. Am J Med Genet A. 2021. PMID: 33112498 Free PMC article.

Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet.

Abdenur JE, Sowa M, Simon M, Steenari M, Skaar J, Eftekharian S, Chang R, Ferdinandusse S, Pitt J. Abdenur JE, et al. Mol Genet Metab Rep. 2020 Jul 3;24:100617. doi: 10.1016/j.ymgmr.2020.100617. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32642440 Free PMC article. No abstract available.

Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation.

Huang WL, Steenari MR, Barrick R, Simon MT, Chang R, Eftekharian SS, Stover A, Schwartz PH, Latini A, Abdenur JE. Huang WL, et al. Among authors: eftekharian ss. Mol Genet Metab Rep. 2023 Dec 2;38:101025. doi: 10.1016/j.ymgmr.2023.101025. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38125072 Free PMC article.

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