Title: A NEW SYNDROME: PROGRESSIVE FAMILIAL INFANTILE CEREBRAL DYSFUNCTION ASSOCIATED WITH AN UNUSUAL URINARY SUBSTANCE
Abstract: Four cases of a syndrome involving a rapidly progressive cerebral dysfunction and commencing during the first week of life are reported. In each of these cases the urine excreted had a peculiar odor resembling that of maple syrup. The pathogenesis of this condition is unexplained, although some anomaly of cerebral metabolism seems to be the most likely cause of the syndrome.
Publication Year: 1954
Publication Date: 1954-11-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
Access and Citation
Cited By Count: 399
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