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3. N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

5. Mutation analysis of urea cycle disorders.

6. The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery

7. Expression and function of the urea cycle in widely-used hepatic cellular models.

9. O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis.

10. Aquaporin 9 induction in human iPSC-derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency.

11. Recovery of enzyme activity in biotinidase deficient individuals during early childhood.

12. Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.

13. The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.

14. Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.

15. Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders.

17. Improvement of diagnostic yield in carbamoylphosphate synthetase 1 ( CPS1 ) molecular genetic investigation by RNA sequencing.

18. A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia.

19. A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency.

20. N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

21. Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report.

22. Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

23. Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations.

24. Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.

25. Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.

26. Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis.

27. Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.

28. Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.

29. Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.

30. Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions.

31. Hepatocyte Transfection in Small Pigs After Weaning by Hydrodynamic Intraportal Injection of Naked DNA/Minicircle Vectors.

32. Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.

34. Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.

35. Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation.

36. Citrin deficiency: A treatable cause of acute psychosis in adults.

37. Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.

38. Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene.

39. Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.

40. Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.

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