Czechoslovak medicine · 1987
A ten-year follow-up study of urinary screening for inherited metabolic disorders.
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Hyánek J, Viletová H, Kunová V, Záková L, Kubík M, Matousová M
Аннотация
Urine samples of 200,000 sucklings in 6th-8th month after delivery was analyzed by means of chromatographic screening test for amino acids, sugars and muccopolysacharides. In 1.4% of them persistent and in 51.6% transitory hyperaminoacidurias, in 0.15% persistent and 12.5% transitory melliturias and in 0.05% alcaptonuria were detected. No one case of muccopolysacharidosis was detected. 239 persistent metabolic disorders were detected. These disorders were not possible to detect by means of an obligatory screening test performed on 5th-6th day after delivery from capillary blood. All positive detected cases were verified by detailed metabolic investigation (thin layer, liquid and gas-chromatography).