Molecular studies of Polish patients with respiratory chain complex I deficiency
نویسندگان
چکیده
منابع مشابه
Molecular Analysis of Polish Patients With Factor VI 1 Deficiency
We analyzed the mutations in patients from 10 Polish kindreds with a bleeding diathesis due to factor VI1 deficiency. Patients from eight families had plasma levels of factor VI1 coagulant activity (VII:C) and factor VI1 antigen (VIkAg) that were less than 4% of normal. The coding sequence of the factor VI1 gene was amplified from genomic DNA by polymerase chain reaction (PCR). Sequencing demon...
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We analyzed the mutations in patients from 10 Polish kindreds with a bleeding diathesis due to factor VII deficiency. Patients from eight families had plasma levels of factor VII coagulant activity (VII:C) and factor VII antigen (VII:Ag) that were less than 4% of normal. The coding sequence of the factor VII gene was amplified from genomic DNA by polymerase chain reaction (PCR). Sequencing demo...
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OBJECTIVES Isolated complex IV (cytochrome c oxidase) deficiency is one of the most frequent respiratory chain defects in mitochondrial disorders (MIDs) and usually occurs together with severe pediatric or rarely adult multisystem disease. Here we report an adult with isolated complex IV deficiency with unusually mild clinical manifestations. CASE REPORT A 50-year-old man had developed genera...
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The aim of this study was to investigate the clinical and genetic profiles of mitochondrial disease resulting from deficiencies in the respiratory chain complex III. Three patients, aged between 8 months and 12 years, were recruited for this study. The activities of mitochondrial respiratory chain complexes in the peripheral leucocytes were spectrophotometrically measured. The entire mitochondr...
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The research goal was to assess the current capabilities of a metabolic modeling environment to support exploration of inborn errors of metabolism (IEMs); and to assess whether, drawing on evidence from published studies of EMs, the current capabilities of this modeling environment correlate with clinical measures of energy production, fatty acid oxidation, accumulation of toxic by-products of ...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Bioenergetics
سال: 2010
ISSN: 0005-2728
DOI: 10.1016/j.bbabio.2010.04.168