Shaya S. Eftekharian

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

Ashlee R. Stiles, Mariella Simon, Alexander E. Stover et al. · Molecular Genetics and Metabolism · 2016 · 119 citations

Genome Instability, Mtdna Depletion, Hepatology +11

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

Mariella Simon, Shaya S. Eftekharian, Alexander E. Stover et al. · Molecular Genetics and Metabolism · 2018 · 47 citations · Full text

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

M. Boyer, Mary Sowa, Ivano Di Meo et al. · Molecular Genetics and Metabolism · 2018 · 37 citations

Nutrition, Neonatology, Ethylmalonic Encephalopathy +13

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

José E. Abdenur, Mary Sowa, Mariella Simon et al. · Molecular Genetics and Metabolism Reports · 2020 · 28 citations · Full text

Free Carnitine, Nutrition, Aldo-keto Reductase +21

<i>ECHS1</i> disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder

Mariella Simon, Shaya S. Eftekharian, Sacha Ferdinandusse et al. · American Journal of Medical Genetics Part A · 2020 · 24 citations · Full text

Genetics, Genetic Epidemiology, Pathology +20