respiratory chain complex
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Mitochondrial disorders have the highest incidence among congenital metabolic disorders characterized by biochemical respiratory… Expand IMPORTANCE
Mitochondrial disorders have emerged as a common cause of inherited disease, but their diagnosis remains challenging… Expand Summary: Purpose: To evaluate the clinical efficacy and safety of the ketogenic diet (KD) for patients with intractable… Expand Alternative oxidase (AOX) functions in stress resistance by preventing accumulation of reactive oxygen species (ROS), but little… Expand Maternal smoking during pregnancy is often associated with a decrease in placental function, which might lead to intrauterine… Expand We showed that the human respiratory chain is organized in supramolecular assemblies of respiratory chain complexes, the… Expand We report here a new mitochondrial regulation occurring only in intact cells. We have investigated the effects of… Expand The thiamine transporter geneSLC19A2 was recently found to be mutated in thiamine responsive megaloblastic anaemia with diabetes… Expand Objective: To define the spectrum of clinical and biochemical features in 51 children with isolated complex I deficiency… Expand We reviewed the clinical features and etiologies of Leigh disease in 66 patients from 60 pedigrees. Biochemical or molecular… Expand