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Your search keyword '"Lichter-Konecki, Uta"' showing total 27 results

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3. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials

4. CURATION OF SEQUENCE VARIANTS IN UREA CYCLE GENES

5. Refining ClinGen loss of function variant recommendations for the phenylalanine hydroxylase (PAH) gene: the PAH variant curation expert panel’s experience

6. Opportunities for fellowship education: the first year of the Medical Biochemical Genetics Clinical Core Seminar Series

7. Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders

9. Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients

10. Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders

11. Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2 months to 2 years

12. The Pennsylvania newborn screening experience for Pompe disease

14. Phenylketonuria Scientific Review Conference: State of the science and future research needs

15. Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes

17. Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening

18. Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate

20. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

21. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH

22. Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases

23. Cross-sectional multicenter study of patients with urea cycle disorders in the United States

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

27. Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.

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