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1

In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene

100%
Zekanowski C., Perez B., Desviat L. R., Wiszniewski W., Ugarte M.
Acta Biochimica Polonica
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2000
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tom 47
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nr 2
Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. At the molecular level, more than 400 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability of symptoms. In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.
2

Haplotype analysis of phenylalanine hydroxylase alleles in Polish families with phenylketonuria

84%
Jaruzelska J., Borski K., Riess O., Blin N., Slomski R.
Acta Biochimica Polonica
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1989
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tom 36
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nr 3-4
3

Measurement of functional independence level and falls-risk in individuals with ungiagnosed phenylketonuria

84%
Mazur A., Jarochowicz S., Oltarzewski M., Sykut-Cegielska J., Kwolek A., O'Malley G.
Acta Biochimica Polonica
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2009
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tom 56
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nr 4
613-618
 The aim of the study was to determine the level of functional independence in adult patients with previously undiagnosed or untreated phenylketonuria (PKU). The study was conducted among 400 intellectually impaired adult residents of Social Welfare Homes in South-Eastern Poland born prior to the introduction of neonatal PKU screening programs. PKU was screened by filter paper test using tandem mass spectrometry methods, and confirmed by gas chromatography-mass spectrometric analysis of PKU organic acids in urine. Degree of functional independence included the assessment of activities of daily living (Barthel Index) and measures of balance and gait (Tinetti scale). Eleven individuals with previously untreated PKU were identified whereby eight presented with moderate disability and three with mild disability. Six had a high risk of falls and five had a moderate risk of falls. This study indicates that there is considerable number of undiagnosed PKU patients within the Polish population who require assessment and management in order to reduce the impact of the neurological and neuropsychiatric problems associated with the condition. Appropriate therapy for those with undiagnosed PKU should, in particular, address the risk of falls.
4

A quantitative bacterial micro-assay for rapid detection of serum phenylalanine in dry blood-spots: Application in phenylketonuria screening

84%
Vallian S., Moeini H.
Journal of Applied Genetics
|
2006
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tom 47
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nr 1
Phenylketonuria is an inherited metabolic disease, which is characterized by increased level of serum phenylalanine (Phe). The quantitative measurement of Phe in the serum is necessary to confirm the disease, and to distinguish phenylketonuria from other forms of hyperphenylalaninemia. In this study, we report a rapid and inexpensive micro-assay for simultaneous detection and quantitative measurement of serum Phe in dry blood-spots. Analysis of the standard curve showed a broad linear Phe range of 120-1800 µmol L⁻¹. Application of this method in conjunction with the standard Guthrie bacterial inhibition assay and high-pressure liquid chromatography in analyzing 34 samples from phenylketonuria patients and control samples produced comparable results, with the regression equation of Y= 0.994X + 0.996. The advantage of this method over the Guthrie bacterial inhibition assay is its ability to measure the serum Phe quantitatively without false positive results. The method was successfully applied to dried blood-spots as well as serum and whole blood samples. The cost per sample is about 20-50 US cents, which is much less than those of high-pressure liquid chromatography and enzymatic commercial kits. The method can be automated, which is suitable for neonatal and mass phenylketonuria screening, especially in developing countries, where funding is a limiting factor.
5
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The directed enzymatic casein hydrolysis

67%
Idziak J., Moszczynski P.
Polish Journal of Food and Nutrition Sciences
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1993
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tom 02
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nr 1
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