Barbara Radomyska

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Benign acute childhood myositis (BACM) is characterised by sudden calf pain and inability to walk. We analyzed the characteristics of seven boys and two girls with BACM treated in the Pediatric Department from April 2005 to March 2009. The mean age at onset of symptoms was 7 +/- 2 years. Two boys were hospitalized twice for BACM. All cases occurred in(More)
OBJECTIVE To elucidate whether screening for mutations causing hyperphenylalaninaemia (HPA) and classic galactosaemia could provide important, additional information on a clinical phenotype. METHOD Genotypes that cause disease at the phenylalanine hydroxylase (PAH) gene and galactose-1-phosphate uridyltransferase (GALT) gene in a group of 101(More)
Abnormalities in protein glycosylation are reported in fructosemia (HFI) and galactosemia, although, particularly in HFI, the published data are limited to single cases. The purpose was to investigate the usefulness of the carbohydrate-deficient transferrin (CDT) profile for identification and monitoring of these disorders. First we analyzed CDT values(More)
PURPOSE Classic galactosemia is an inherited metabolic disease resulting from galactose-1-phosphate uridyltransferase (GALT) deficiency. Dietary lactose exclusion reverses many clinical manifestations of acute phase of the disease. Unfortunately most of the patients, despite dietary treatment, develop long-term complications among them disturbances of bone(More)
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a fatty acid oxidation disorder with especially high mortality and uncertain long-term outcome. The aim of the study was to analyze the influence of diagnostic approach on survival in 59 affected children. Referral to a metabolic center was replaced over time by urine/blood testing in(More)
The relationship between lipids, lipoproteins, total homocysteine, and lipoprotein (a) was studied in hypercholesterolemic and normocholesterolemic children. In hypercholesterolemic children, concentrations of total cholesterol, low-density lipoprotein (LDL) cholesterol, apolipoprotein B, and triglycerides were significantly higher compared to levels in(More)
High serum homocysteine (tHcy) concentration is increasingly recognised as independent risk factor for atherosclerosis, early coronary heart disease (CHD) and other vascular diseases. It has been proved that adult cardiovascular disease begins in childhood. In the presented studies we determined concentrations of homocysteine, lipids and lipoproteins in(More)
Classical galactosaemia is caused by a deÐciency of galactose-1-phosphate uridyltransferase (GALT; McKusick 230400). The disease occurs with a frequency of about 1/35 000 in Poland. Galactosaemia in newborns exposed to dietary galactose is characterized by acute symptoms of hepatomegaly and hepatocellular dysfunction, failure to thrive, sepsis and(More)
The results and the significance of neonatal mass-screening programmes for inborn errors of metabolism, conducted by the National Research Institute of Mother and Child (NRIMC), are discussed. As the first in Poland, in 1964, mass-screening for phenylketonuria (PKU) was introduced. The BIA-Guthrie test was used. Other Guthrie tests (GBIA) were applied in(More)
The Mediterranean diet is well known for its health-promoting effects. Among its key ingredients, olive oil is the most characteristic. Processing industries have been successfully manufacturing and marketing jarred baby foods with the use of vegetable oils, including olive oil, as well as other sources of visible fat. We aimed to survey manufacturer claims(More)
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