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    Wyświetlanie 1-4 z 4
    Tytuł:
    Identification of 2-[2-nitro-4-(trifluoromethyl)benzoyl]- cyclohexane-1,3-dione metabolites in urine of patients suffering from tyrosinemia type I with the use of 1H and 19F NMR spectroscopy
    Autorzy:
    Szczeciński, Przemysław
    Lamparska, Diana
    Gryff-Keller, Adam
    Gradowska, Wanda
    Powiązania:
    https://bibliotekanauki.pl/articles/1040682.pdf
    Data publikacji:
    2008
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    tyrosinemia
    NMR
    NTBC metabolites
    Opis:
    Organic extracts of six urine samples from children treated with nitisinone, a medicine against tyrosinemia type I, were investigated by 1H and 19F NMR spectroscopy. The presence of unchanged 2-[2-nitro-4-(trifluoromethyl)benzoyl]cyclohexane-1,3-dione (NTBC), 6-hydroxy-2-[2-nitro-4-(trifluoromethyl)benzoyl]cyclohexane-1,3-dione (NTBC-OH) and 2-nitro-4-trifluoromethylbenzoic acid (NTFA) as well as a few other unidentified compounds containing CF3 group was documented.
    Źródło:
    Acta Biochimica Polonica; 2008, 55, 4; 749-752
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Investigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy
    Autorzy:
    Bal, Dominika
    Kraska-Dziadecka, Anna
    Gradowska, Wanda
    Gryff-Keller, Adam
    Powiązania:
    https://bibliotekanauki.pl/articles/1040823.pdf
    Data publikacji:
    2008
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    urine
    13C NMR
    inherited metabolic disease
    1H NMR
    marker metabolite
    Opis:
    High-resolution 1H NMR spectroscopy of body fluids has proved to be very useful in diagnostics of inherited metabolic diseases, whereas 13C NMR remains almost unexploited. In this paper the application of 13C NMR spectroscopy of fivefold concentrated urine samples for diagnosis of selected metabolic diseases is reported. Various marker metabolites were identified in test urine samples from 33 patients suffering from 10 different diseases, providing information which could be crucial for their diagnoses. Spectra were accumulated for 2 h or overnight when using spectrometers operating at 9.4 or 4.7 T magnetic fields, respectively. Interpretation of the measurement results was based on a comparison of the peak positions in the measured spectrum with reference data. The paper contains a table with 13C NMR chemical shifts of 73 standard compounds. The method can be applied individually or as an auxiliary technique to 1H NMR or any other analytical method.
    Źródło:
    Acta Biochimica Polonica; 2008, 55, 1; 107-118
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Biochemical and clinical characteristics of creatine deficiency syndromes.
    Autorzy:
    Sykut-Cegielska, Jolanta
    Gradowska, Wanda
    Mercimek-Mahmutoglu, Saadet
    Stöckler-Ipsiroglu, Sylvia
    Powiązania:
    https://bibliotekanauki.pl/articles/1041497.pdf
    Data publikacji:
    2004
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    creatine deficiency
    creatine-monohydrate
    guanidinoacetate
    Opis:
    Creatine deficiency syndromes are a newly described group of inborn errors of creatine synthesis (arginine:glycine amidinotransferase (AGAT) deficiency and guanidinoacetate methyltransferase (GAMT) deficiency) and of creatine transport (creatine transporter (CRTR) deficiency). The common clinical feature of creatine deficiency syndromes is mental retardation and epilepsy suggesting main involvement of cerebral gray matter. The typical biochemical abnormality of creatine deficiency syndromes is cerebral creatine deficiency, which is demonstrated by in vivo proton magnetic resonance spectroscopy. Measurement of guanidinoacetate in body fluids may discriminate between the GAMT (high concentration), AGAT (low concentration) and CRTR (normal concentration) deficiencies. Further biochemical characteristics include changes in creatine and creatinine concentrations in body fluids. GAMT and AGAT deficiency are treatable by oral creatine supplementation, while patients with CRTR deficiency do not respond to this type of treatment. The creatine deficiency syndromes are underdiagnosed, so their possibility should be considered in all children affected by unexplained mental retardation, seizures and speech delay.
    Źródło:
    Acta Biochimica Polonica; 2004, 51, 4; 875-882
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient
    Autorzy:
    Mazur, Artur
    Figurski, Szymon
    Płoskoń, Anna
    Meijer, Judith
    Zoetekouw, Lida
    Wątróbska, Stanisława
    Sykut-Cegielska, Jolanta
    Gradowska, Wanda
    van Kuilenburg, André
    Powiązania:
    https://bibliotekanauki.pl/articles/1040687.pdf
    Data publikacji:
    2008
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    dihydropyrimidine dehydrogenase deficiency
    psychomotor retardation
    child
    Opis:
    Dihydropyrimidine dehydrogenase (DPD) deficiency is a rare defect of the first step of the pyrimidine catabolic pathway. Patients with a complete enzyme deficiency may be clinically asymptomatic or suffer from neurological abnormalities of various severity. We report a case of an 8-year-old girl with psychomotor retardation and mild course of the disease. Analysis of urine showed strongly elevated levels of uracil and thymine, and no DPD activity could be detected in peripheral blood mononuclear cells. Sequence analysis of the DPD gene (DPYD) revealed that our patient was homozygous for the common splice-site mutation IVS14+1G > A, which suggest that the carrier status for this mutation may be not rare in the Polish population.
    Źródło:
    Acta Biochimica Polonica; 2008, 55, 4; 787-790
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
      Wyświetlanie 1-4 z 4

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