13 results on '"Lichter-Konecki, Uta"'
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2. Phenylketonuria: Current Treatments and Future Developments.
3. New in Newborn Screening.
4. Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
5. Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease.
6. DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles.
7. The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.
8. DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population.
9. Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population.
10. The phenylketonuria G272X haplotype 7 mutation in European populations.
11. Haplotype distribution and mutations at the PAH locus in Croatia.
12. Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy.
13. RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene.
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