Search PubMed⌕ Search

Biomedical subjects

J Homolka

Publications and source records attributed to J Homolka.

At least 91 records · Page 5Linked to original sources
PubMed1977

Screening of amino acid enzymopathies in pregnancy and possibilities of their prenatal diagnosis.

The report discusses the first results obtained by chromatographic screening of the blood amino acids in pregnant women at the outset of pregnancy. Typical cases of maternal phenylketonuria and maternal hyperphenylalaninaemia found among 2,000 women examined are described in detail, giving a concise metabolic, clinical and genetic picture. The biochemical possibilities of diagnosing congenital disorders of amino acid metabolism before birth are also discussed.

Amino Acid Metabolism, Inborn Errors↗
PubMed1977

Detection of the most frequent congenital amino acid enzymopathies by multiple screening.

The lecture submits a survey of the most frequent primary congenital disorders of amino acid metabolism and discusses their diagnostic significance for clinical biochemistry, paediatrics and antenatal medicine. The results of multiple chromatographic screening of these diseases, which has been carried out systematically since 1961, are commented on. It was demonstrated that all congenital disorders of amino acid metabolism can be found in the Czechoslovak population, provided that they are systematically diagnosed. The incidence of individual diseases in series of healthy and mentally retarded children belonging to different age groups is shown in the relevant tables.

Amino Acid Metabolism, Inborn Errors↗