257 results on '"Lichter-Konecki, Uta"'
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2. Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency
3. Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders
4. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
5. Late diagnosis of the X-linked MCT8 deficiency (Allan–Herndon–Dudley syndrome) in a teenage girl with primary ovarian insufficiency.
6. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials
7. Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy
8. Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder
9. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate
10. Phenylketonuria: Current Treatments and Future Developments
11. P018: Phenylketonuria families and researchers evaluating evidence (PHEFREE), the NIH Rare Disease Consortium for PKU
12. P007: PP4 criteria specifications for proximal urea cycle disorders*
13. Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
14. CURATION OF SEQUENCE VARIANTS IN UREA CYCLE GENES
15. Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings
16. New in Newborn Screening
17. Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease
18. Multisite Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism
19. Contributors
20. Inborn Errors of Urea Synthesis
21. Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
22. MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase
23. Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency
24. Neurotransmission and Neurotoxicity (Phenylketonuria and Dopamine)
25. Menkes disease in affected females: The clinical disease spectrum
26. Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings
27. Refining ClinGen loss of function variant recommendations for the phenylalanine hydroxylase (PAH) gene: the PAH variant curation expert panel’s experience
28. Opportunities for fellowship education: the first year of the Medical Biochemical Genetics Clinical Core Seminar Series
29. Genomics in Newborn Screening
30. Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders
31. Effectiveness of a clinical pathway for the emergency treatment of patients with inborn errors of metabolism
32. A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing
33. Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease
34. Inborn Errors of Urea Synthesis
35. Contributors
36. The Genetic Landscape and Epidemiology of Phenylketonuria
37. Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case
38. Augmenting Ureagenesis in Patients with Partial Carbamyl Phosphate Synthetase 1 Deficiency with N-carbamyl-l-glutamate
39. Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with Tandem Mass Spectrometry
40. Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain‐specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events
41. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases
42. DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles
43. Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate
44. The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations
45. Structural characterization of the 5' regions of the human phenylalanine hydroxylase gene
46. Molecular basis of phenotypic heterogeneity in phenylketonuria
47. Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients
48. Can pathology help in functional interpretation of genetic variants – A case report of Novel variants in NARS2 gene with mitochondrial dysfunction presenting as early infantile epileptic encephalopathy with cardiac and skeletal muscle involvement (P4.6-063)
49. Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium
50. Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders
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