972 results on '"Häberle, Johannes"'
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2. CRISPR-Mediated Genomic Addition to CPS1 Deficient iPSCs is Insufficient to Restore Nitrogen Homeostasis.
3. Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency
4. Quo vadis ureagenesis disorders? A journey from 90 years ago into the future
5. Use of pure recombinant human enzymes to assess the disease‐causing potential of missense mutations in urea cycle disorders, applied to N‐acetylglutamate synthase deficiency
6. Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency
7. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
8. O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis
9. Clinical implementation of RNA sequencing for Mendelian disease diagnostics
10. LEMD2‐associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene.
11. Base editing of Ptbp1 in neurons alleviates symptoms in a mouse model for Parkinson's disease
12. In vivo adenine base editing of PCSK9 in macaques reduces LDL cholesterol levels
13. Disorders of Glutamine, Serine and Asparagine Metabolism
14. Disorders of the Urea Cycle and Related Enzymes
15. Disorders of Ammonia Detoxification
16. Preserved Blood Spots Aid Antenatal Diagnosis of Citrullinemia Type-1
17. Expression and function of the urea cycle in widely‐used hepatic cellular models
18. Therapeutische Optionen bei angeborenen Stoffwechselstörungen
19. CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
20. Glycogen storage disease type VI: clinical course and molecular background
21. Neurological Deterioration in Three Siblings: Exploring the Spectrum of Argininemia
22. Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening
23. Harnstoffzyklusstörungen
24. Urea cycle disorders—update
25. Harnstoffzyklusstörungen
26. Safe delivery of AAV vectors to the liver of small weaned pigs by ultrasound-guided percutaneous transhepatic portal vein injection
27. Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases—Data from the E-IMD consortium
28. Safe delivery of AAV vectors to the liver of small weaned pigs by ultrasound-guided percutaneous transhepatic portal vein injection
29. Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism
30. Impact of small molecule‐mediated inhibition of ammonia detoxification on lung malignancies and liver metabolism
31. Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application
32. Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study
33. Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings
34. Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency.
35. Impact of small molecule‐mediated inhibition of ammonia detoxification on lung malignancies and liver metabolism
36. Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories
37. Intrabiliary infusion of naked DNA vectors targets periportal hepatocytes in mice
38. Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice
39. Impact of the SARS‐CoV ‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium
40. Impact of small molecule‐mediated inhibition of ammonia detoxification on lung malignancies and liver metabolism
41. Response to Baertling et al.
42. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
43. Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
44. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
45. Primary Hyperammonaemia: Current Diagnostic and Therapeutic Strategies
46. Recovery of enzyme activity in biotinidase deficient individuals during early childhood
47. Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency
48. N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region
49. Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing
50. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
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