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26 results on '"Lichter-Konecki, Uta"'

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1. Late diagnosis of the X-linked MCT8 deficiency (Allan–Herndon–Dudley syndrome) in a teenage girl with primary ovarian insufficiency.

3. Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy

4. Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium

6. Inborn Errors of Metabolism with Cognitive Impairment

7. Multisite Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism.

8. Defects of the urea cycle

10. Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder

11. Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.

12. Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with Tandem Mass Spectrometry.

13. Augmenting Ureagenesis in Patients with Partial Carbamyl Phosphate Synthetase 1 Deficiency with N-carbamyl-l-glutamate.

14. The Correlation of Genotype and Phenotype in Portuguese Hyperphenylalaninemic Patients

15. Expression patterns of murine lysosome-associated membrane protein 2 (Lamp-2) transcripts during morphogenesis

16. Human Phenylalanine Hydroxylase Gene Expression in Kidney and Other Nonhepatic Tissues

17. Phenylketonuria

18. Changes in the Eeg Background Activity of Children with Acute Lymphoblastic Leukemia During Cytotoxic Therapy

19. DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles

20. The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

21. Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population

22. Fine Mapping of the Cystinosis Gene Using an Integrated Genetic and Physical Map of a Region within Human Chromosome Band 17p13

23. DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population

24. The phenylketonuria G272X haplotype 7 mutation in European populations

25. Haplotype distribution and mutations at the PAH locus in Croatia

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