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D Mardesić

Publications and source records attributed to D Mardesić.

At least 37 records · Page 2Linked to original sources
PubMedDate not supplied

Haplotype distribution and mutations at the PAH locus in Croatia.

Restriction fragment length polymorphism (RFLP) haplotypes and mutations at the phenylalanine hydroxylase (PAH) locus have been studied in 25 unrelated families from Croatia. The results of RFLP analysis demonstrated that 80% of the mutant alleles were associated with three haplotypes (1, 2 and 4). Eight mutations were detected on the background of six mutant haplotypes, comprising 68% of phenylketonuria (PKU) alleles in Croatia. The mutation in codon 408 was most frequent, as was the haplotype 2 allele with which it was associated. These data are in accordance with formerly published population genetic analyses at the PAH locus, and with studies revealing the molecular basis of the phenotypic heterogeneity of PKU. The codon 281 mutation was more frequent in Croatia than previously observed in other populations.

Alleles↗
PubMedDate not supplied

[Care of children during wartime].

Children represent the most vulnerable segment of the civilian population during wartime. Besides the direct effects of weapons and destructions during warfare, children are particularly prone to other forms of damage; extensive disruptions in the environment of the individual child are setting the stage for an increased appearance of infectious diseases, and long term limitations of adequate nutrition are causing various forms of malnutrition and of nutritional deficiencies. The consecutive decrease of general resistance against infectious diseases is an important dispositional factor in the pathogenesis of recurrent and chronic infections. Most severe, far reaching and often irreversible damages are those of mental health of children, sometimes lasting for the whole lifetime of the individual. Some of the most simple but effective preventive measures to alleviate the suffering of children during wartime, accessible to every health worker are briefly reviewed.

Child↗
PubMedDate not supplied

[Inborn metabolic errors of urea cycle synthesis. Present possibilities of treatment].

The case history of an infant with congenital hyperammonaemia due to inherited ornithine-transcarbamylase deficiency is presented together with some basic data on his family. The metabolic cycle of urea synthesis is delineated with its enzymes and the possible inherited defects. The differential diagnosis of hyperammonaemia in the newborn infant is given. The successful contemporary method of therapy of urea cycle disorders is presented.

Amino Acid Metabolism, Inborn Errors↗