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polymicrogyria/oxidase
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5 resultater
Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect.
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We present a rare case of peroxisomal acyl-CoA oxidase deficiency that was not detected by the common metabolic screening program for peroxisomal disorders. The patient presented with a typical MRI pattern showing pachygyria, perisylvian polymicrogyria, cerebral and cerebellar white matter
Peroxisomal disorders in children: immunohistochemistry and neuropathology.
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Immunohistochemical studies with antisera against four peroxisomal enzymes, catalase and beta-oxidation enzymes (acyl-coenzyme A oxidase, bifunctional protein, and 3-ketoacyl-CoA thiolase), were performed on brain, liver, and kidney specimens from patients with peroxisomal disorders, as well as
Impaired synaptic plasticity in the surround of perinatally acquired [correction of aquired] dysplasia in rat cerebral cortex.
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Freeze-lesion induced neocortical dysplasias in rats mimic numerous aspects of human polymicrogyria and are used as a model for the study of developmental migration disorders. Since memory tests have demonstrated learning deficits in rodents with neocortical malformations, we investigated the
[Neuropathology of peroxisomal disorders; Zellweger syndrome and neonatal adrenoleukodystrophy].
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Neuropathology of peroxisomal disorders showed polymicrogyria in the cerebral and cerebellar cortices, neuronal heterotopia in the cerebral white matter, dysplasia of the inferior olivary nucleus and subependymal cyst in 6 cases of Zellweger syndrome (ZS), and diffuse loss of myelin sheath and mild
Experimental microgyri disrupt the barrel field pattern in rat somatosensory cortex.
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Transcranial freeze lesions in neonatal rat pups produce microgyri and adjacent epileptogenic regions of neocortex that can be used to model human polymicrogyria. The hypothesis that the presence of microgyri is associated with abnormal cortical organization occurring within as well as adjacent to
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