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- W2083306670 abstract "A child born to a phenylketonuric (PKU) woman not on dietary treatment was microcephalic and had congenital heart and other physical anomalies consistent with the maternal PKU syndrome. After a repeat cardiac catherization at 3 months of age, he suffered an embolic left cerebral infarct and seizures. He was found by his mother dead in bed at 4 months of age; general autopsy revealed Klebsiella sepsis and pneumonia. Neuropathologic studies of the right cerebral hemisphere showed neuronal loss of the third cortical layer; Golgi studies revealed persistently immature cortical pyramidal cell somata and dendritic spines. This is the first report of specific neuronal abnormalities in a child with the maternal PKU syndrome and may, in part, account for the clinical features of microcephaly, mental retardation, and seizures seen in affected children. (J Child Neurol 1987;2:201-204)." @default.
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- W2083306670 date "1987-07-01" @default.
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- W2083306670 title "Abnormal Cerebral Cortical Neurons in a Child With Maternal PKU Syndrome" @default.
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- W2083306670 doi "https://doi.org/10.1177/088307388700200306" @default.
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