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1. CURATION OF SEQUENCE VARIANTS IN UREA CYCLE GENES

2. Contributors

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

5. Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

6. MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase

7. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

8. Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

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

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

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

16. Contributors

17. A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing

18. The Genetic Landscape and Epidemiology of Phenylketonuria

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

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

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

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

26. Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

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

31. The Pennsylvania newborn screening experience for Pompe disease

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

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

39. Treatment-related signs and symptoms among patients with urea cycle disorders (UCDs) during treatment with sodium phenylbutyrate and glycerol phenylbutyrate

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

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

44. Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

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

47. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

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

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

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