36 results on '"Urea cycle disorders"'
Search Results
2. Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China
3. Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency
4. Citrulline in the management of patients with urea cycle disorders
5. Neuroimaging findings of inborn errors of metabolism: urea cycle disorders, aminoacidopathies, and organic acidopathies
6. Hyperammonemia in Inherited Metabolic Diseases
7. Leberversagen und Koma nach leichtem Alkoholrausch - was ist da los?
8. Anesthesia management in living-donor liver transplantation in a patient with carbamoyl phosphate synthetase deficiency: a case report
9. Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus
10. Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review
11. Management of late onset urea cycle disorders—a remaining challenge for the intensivist?
12. The burden of pharmacological treatment on health-related quality of life in people with a urea cycle disorder: a qualitative study
13. Ernährung bei angeborenen Stoffwechselerkrankungen – ein Spagat zwischen Genuss und Therapie
14. Developing interactions with industry in rare diseases: lessons learned and continuing challenges
15. Neurological Deterioration in Three Siblings: Exploring the Spectrum of Argininemia
16. Metabolic Disorders and Anesthesia
17. Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders
18. Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency
19. Formulation and Clinical Evaluation of Sodium Benzoate Oral Solution for the Treatment of Urea Cycle Disorders in Pediatric Patients
20. Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report
21. α-Ketoglutaramate: an overlooked metabolite of glutamine and a biomarker for hepatic encephalopathy and inborn errors of the urea cycle
22. Hyperammonämie
23. Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism
24. Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1
25. Urea cycle defects and hyperammonemia: effects on functional imaging
26. Varianten von Harnstoffzyklusstörungen
27. Urinary 2-hydroxy-5-oxoproline, the lactam form of α-ketoglutaramate, is markedly increased in urea cycle disorders
28. MRI findings in an adolescent with type I citrullinaemia
29. Long-term outcome of patients with urea cycle disorders and the question of neonatal screening
30. Multiorgan donation from a donor with unrecognized ornithine transcarbamylase deficiency
31. Liver transplantation in urea cycle disorders
32. Efficient Mitochondrial Import of Newly Synthesized Ornithine Transcarbamylase (OTC) and Correction of Secondary Metabolic Alterations in spfash Mice following Gene Therapy of OTC Deficiency
33. Behandlung des hyperammonämischen Komas bei Neugeborenen und Säuglingen durch Hämodialyse oder Hämofiltration
34. Sodium citrate supplementation in inborn argininosuccinate lyase deficiency: A study in a 5-year-old patient under total parenteral nutrition
35. Loss of [3H]MK801 binding sites in brain in congenital ornithine transcarbamylase deficiency
36. Acute and chronic effects of carbamyl glutamate on blood urea and ammonia
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