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Wyświetlanie 1-3 z 3
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:
Measurement of functional independence level and falls-risk in individuals with undiagnosed phenylketonuria
Autorzy:
Mazur, Artur
Jarochowicz, Sabina
Ołtarzewski, Mariusz
Sykut-Cegielska, Jolanta
Kwolek, Andrzej
O'Malley, Grace
Powiązania:
https://bibliotekanauki.pl/articles/1040471.pdf
Data publikacji:
2009
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
undiagnosed PKU
falls
functional independence level
balance
gait
Opis:
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.
Źródło:
Acta Biochimica Polonica; 2009, 56, 4; 613-618
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 1-3 z 3

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