نتایج جستجو برای: propionic acidemia
تعداد نتایج: 4552 فیلتر نتایج به سال:
Treatment with L-carnitine greatly enhanced the formation and excretion of short-chain acylcarnitines in three patients with propionic acidemia and in three normal controls. The use of fast atom bombardment mass spectrometry and linked scanning at constant magnetic (B) to electric (E) field ratio identified the acylcarnitine as propionylcarnitine in patients with propionic acidemia. The normal ...
BACKGROUND Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited. STUDY DESIGN/METHODS Clinical and outcome data of 55 patients with propionic acidemia from 16 European metabolic centers were evaluated retrospectively. 35 patie...
BACKGROUND Patients with propionic acidemia usually present in the neonatal period with life-threatening ketoacidosis, often complicated by hyperammonemia. It was thought that the neurologic abnormalities seen in this disease were exclusively the consequences of these acute crises. Experience with 2 patients with propionic acidemia indicates that this disease may present first with prominent ne...
The metabolic products of propionate metabolism in man were studied by determining the pattern of isotope in the urine following the intravenous injection of [lJ%]propionate. A major peak of radioactivity not present in control subjects was found in an organic acid in two patients with propionic acidemia and a patient with methylmalonic acidemia. This labeled compound was characterized as methy...
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