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l isoleucine/seizures

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NesneKlinik denemelerPatentler
5 Sonuçlar

[Infant boy with propionic acidemia: anesthetic implications].

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A 12-month-old boy diagnosed with propionic acidemia underwent gastrostomy. The patient's general state was good and he was alert, but with reduced muscular tone (unstable when seated with support, floppy head) and with dystonic movements in all extremities. An electroencephalogram showed slightly

Memory: proline induces retrograde amnesia in chicks.

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Intracerebral injection of L-proline, 1 minute after one-trial avoidance training of chicks, impaired memory 24 hours later. Chicks injected with proline 1 or 4 hours after training and controls injected with L-isoleucine at intervals after training, showed no impairment of memory 24 hours after

2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report.

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BACKGROUND 2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by a defect in the degradation pathway of the amino acid L-isoleucine. METHODS We report a four-year-old mentally retarded Somali boy with autism and a history of

Induction of oxidative stress in rat brain by the metabolites accumulating in maple syrup urine disease.

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Maple syrup urine disease (MSUD) is an inherited disorder caused by deficiency of branched-chain L-2-keto acid dehydrogenase complex activity. Affected patients present severe brain dysfunction manifested as convulsions, coma, psychomotor delay and mental retardation. However, the underlying

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

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Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) is an autosomal recessive disorder of L: -isoleucine catabolism. Little is known about the clinical presentation associated with this enzyme defect, as it has been reported in only a limited number of patients. Because the presence of
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