Cir-du-chat syndrome with an increased level of proline and threonine
Kühner, U.; Büsse, M.; Buchinger, G.
Zeitschrift für Kinderheilkunde 117(4): 259-264
1974
ISSN/ISBN: 0044-2917 PMID: 4412448 Document Number: 78957
The typical symptoms of the cri-du-chat syndrome (46,XX,5p-) are described in an infant. The frequency of kidney anomalies and increased serum and urine levels of proline and threonine, described for the first time in a single case of cri-du-chat syndrome, are discussed.
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