A. G. Antoshechkin

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By using ion-exchange chromatography and gas chromatography coupled with mass spectrometry, the content of phenylalanine, tyrosine and their metabolites typical of phenylketonuria (PKU) was determined in the cerebrospinal fluid (CSF) of 8 untreated children with classical PKU and 9 controls. At the same time, plasma and urine were analysed. In PKU the(More)
In order to study metabolic distinctions in phenylketonuria, urinary metabolites in the form of trimethylsilyl derivatives have been characterized by high resolution gas chromatography and mass spectrometry. A previously unknown metabolite has been found in the urine of some untreated phenylketonuric infants between 2 and 5 yr of age. The metabolite was(More)
influence of alcohol on man’s health, very few of them discuss the issue of the presence of ethanol in the human body not connected with alcohol consumption. Such ethanol is commonly called endogenous. It is believed to originate from the microbial fermentation of the carbohydrates in the gastro-intestinal tract (Krebs and Perkins, 1970; Blomstrand, 1971).(More)
Thirty-one unrelated phenylketonuria patients from the Moscow region were screened for mutations in the phenylalanine hydroxylase gene at the following codons: 408, 158, 261 and IVS-12. For detection of point mutations, polymerase chain reaction amplification was applied with allele-specific oligonucleotide hybridization. The following mutation frequencies(More)
Metabolites excreted into culture medium by human skin fibroblasts have been studied by high resolution gas chromatography and mass spectrometry. Parameters for 29 metabolites have been obtained and 11 of them have been identified. Excreted metabolites reflect activity of certain metabolic processes in fibroblasts. Comparison of chromatographic and mass(More)