247 results on '"Ranganath, Lakshminarayan R"'
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2. “Lessons from Rare Forms of Osteoarthritis”
3. Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial
4. The contribution of mouse models in the rare disease alkaptonuria
5. Anatomical Distribution of Ochronotic Pigment in Alkaptonuric Mice is Associated with Calcified Cartilage Chondrocytes at Osteochondral Interfaces
6. Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortium
7. Nitisinone Treatment Affects Biomarkers of Bone and Cartilage Remodelling in Alkaptonuria Patients
8. Evaluation of Homogentisic Acid, a Prospective Antibacterial Agent Highlighted by the Suitability of Nitisinone in Alkaptonuria 2 (SONIA 2) Clinical Trial
9. Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with Alkaptonuria
10. Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice
11. Age-Related Deviation of Gait from Normality in Alkaptonuria
12. Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations
13. Concentric lamellae – novel microanatomical structures in the articular calcified cartilage of mice
14. First decade anniversary of the United Kingdom National Alkaptonuria Centre
15. Lessons from rare diseases of cartilage and bone
16. Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies
17. Analysis of the Phenotype Differences in Siblings with Alkaptonuria
18. Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone
19. Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria
20. Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria
21. Comparing the Phenylalanine/Tyrosine Pathway and Related Factors between Keratopathy and No-Keratopathy Groups as Well as between Genders in Alkaptonuria during Nitisinone Treatment
22. Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism
23. Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing
24. Impact of Nitisinone on the Cerebrospinal Fluid Metabolome of a Murine Model of Alkaptonuria
25. Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index
26. Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients
27. Long‐term low dose nitisinone therapy in adults with alkaptonuria shows no cognitive decline or increased severity of depression
28. Correction: Zatkova et al. Analysis of the Phenotype Differences in Siblings with Alkaptonuria. Metabolites 2022, 12 , 990.
29. The Role of Nitisinone in Tyrosine Pathway Disorders
30. Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment
31. Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria—An approach using statistical modelling
32. Identifying joint-specific gait mechanisms causing impaired gait in alkaptonuria patients
33. Serum concentrations and urinary excretion of homogentisic acid and tyrosine in normal subjects
34. Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations
35. Development of an effective therapy for alkaptonuria – Lessons for osteoarthritis
36. The anatomical distribution of ochronotic pigment in alkaptonuric mice reveals that ageing and mechanical loading make collagen susceptible to chemical attack
37. Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism
38. Natural history of alkaptonuria revisited: analyses based on scoring systems
39. Cardiovascular manifestations of Alkaptonuria
40. Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone
41. Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index.
42. Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients.
43. Characteristics of early Paget's disease in SQSTMI mutation carriers:baseline analysis of the ZIPP study cohort
44. Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort
45. Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort.
46. Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic acid lowering therapy in a large cohort of 87 patients
47. Characterising the arthroplasty in spondyloarthropathy in a large cohort of eighty‐seven patients with alkaptonuria
48. Recent advances in management of alkaptonuria (invited review; best practice article)
49. Long‐term low dose nitisinone therapy in adults with alkaptonuria shows no cognitive decline or increased severity of depression.
50. Development of an in vitro model to investigate joint ochronosis in alkaptonuria
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