نتایج جستجو برای: plasma acylcarnitine profile
تعداد نتایج: 564619 فیلتر نتایج به سال:
Early detection and management of inborn errors of metabolism (IEMs) can improve the affected infant’s prognosis. Initial screening tests can provide a general overview of the infant’s metabolic status and suggest potential IEMs. Among the clinical findings seen in many IEMs are encephalopathy, hypoglycemia, jaundice and liver disease, cardiac arrhythmias, cardiomyopathy, hypotonia, dysmorphic ...
We describe a 29 year old patient with propionic acidemia presentingwith a sudden onset of neuropsychiatric symptoms. The diagnosis of propionic acidemia wasmade by a fibroblast enzyme assay at the age of 5 weeks during an episode of coma and acidosis. He had several episodes of metabolic decompensation in early childhood leading to global developmental delays. The patient was lost to follow up...
Although evidence that type 2 diabetes mellitus (T2DM) is accompanied by mitochondrial dysfunction in skeletal muscle has been accumulating, a causal link between mitochondrial dysfunction and the pathogenesis of the disease remains unclear. Our study focuses on an early stage of the disease to determine whether mitochondrial dysfunction contributes to the development of T2DM. The fructose-fed ...
Patients with atherosclerotic peripheral arterial disease (PAD) of the lower extremities have impaired walking ability due to exercise-induced muscle ischemia and the resultant pain of intermittent claudication. To evaluate the benefit of exercise training as a treatment for patients with PAD, as well as possible mechanisms associated with improvement, we randomly assigned 19 men with disabling...
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