Publications by authors named "N Duczynska"

Plasma and amniotic fluid amino acids were assayed in 20 women of genetic risk groups in the second trimester of pregnancy. The age of patients ranged from 19 to 38 years. Indication for amnio-puncture were: chromosomal aberration or neural tube defect in previous pregnancy or age of pregnant women over 35 years.

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Differential diagnosis in 144 cases of hyperphenylalaninemia detected through the newborn screening is discussed. In 123 infants phenylketonuria was diagnosed, so they were treated with the low phe diet. Verificatory examinations performed in diagnostically doubtful cases with the use of protein loading confirmed persistent enzymatic defect in all of them.

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A screening programme for early detection of inborn errors of metabolism in Polish newborn population has been evaluated. Guthrie bacterial inhibition assay for amino-acidopathies, Beutler and Baluda test for galactosemia, meconium test and ion-selective chloride electrode for cystic fibrosis, radioimmunological test for congenital hypothyroidism, and multidirectional urine screening test are described and the results discussed.

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