323 results on '"Kubota, Takuo"'
Search Results
2. Self-Administration of Burosumab in Children and Adults with X-Linked Hypophosphataemia in Two Open-Label, Single-Arm Clinical Studies
3. Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study
4. Burosumab treatment of X-linked hypophosphatemia patients: interim analysis of the SUNFLOWER longitudinal, observational cohort study
5. Phosphate promotes osteogenic differentiation through non-canonical Wnt signaling pathway in human mesenchymal stem cells
6. Impact of X-linked hypophosphatemic rickets/osteomalacia on health and quality of life: baseline data from the SUNFLOWER longitudinal, observational cohort study.
7. Genotype–phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling
8. Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data
9. Clinical performance of a novel chemiluminescent enzyme immunoassay for FGF23
10. Incidence rate of vitamin D deficiency and FGF23 levels in 12- to 13-year-old adolescents in Japan
11. Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome
12. Management of calcium and phosphate disorders
13. Regulation of Ligand and Shear Stress-induced Insulin-like Growth Factor 1 (IGF1) Signaling by the Integrin Pathway*
14. IGF‐I Signaling in Osterix‐Expressing Cells Regulates Secondary Ossification Center Formation, Growth Plate Maturation, and Metaphyseal Formation During Postnatal Bone Development
15. Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients
16. Impact of fracture characteristics and disease-specific complications on health-related quality of life in osteogenesis imperfecta
17. Gender‐Specific Differences in the Skeletal Response to Continuous PTH in Mice Lacking the IGF1 Receptor in Mature Osteoblasts
18. A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess
19. Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life
20. Insulin-like growth factor-1 receptor in mature osteoblasts is required for periosteal bone formation induced by reloading
21. Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period
22. Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy
23. Physical, Mental, and Social Problems of Adolescent and Adult Patients with Achondroplasia
24. Phenotypes of a family with XLH with a novel PHEX mutation
25. Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-sectional study
26. Oral manifestations of Japanese patients with osteogenesis imperfecta
27. P141: Persistent growth-promoting effects of vosoritide in children with achondroplasia is accompanied by improvement in physical aspects of quality of life*
28. P139: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 4 years: Update from phase 3 extension study*
29. A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly
30. Successful induction of sclerostin in human-derived fibroblasts by 4 transcription factors and its regulation by parathyroid hormone, hypoxia, and prostaglandin E2
31. Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report
32. A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features
33. A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant
34. A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4
35. Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia
36. Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families
37. Serum calcitriol levels in a patient with X-linked hypophosphatemia complicated by autosomal dominant polycystic kidney disease
38. Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts
39. X-Linked Hypophosphatemia Transition and Team Management
40. Safety and Efficacy of Burosumab in Pediatric Patients With X-Linked Hypophosphatemia: A Phase 3/4 Open-Label Trial
41. Inconvenience and adaptation in Japanese adult achondroplasia and hypochondroplasia: A cross-sectional study
42. Prevalence of Pseudohypoparathyroidism and Nonsurgical Hypoparathyroidism in Japan in 2017: A Nationwide Survey
43. A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta
44. Phosphate Promotes Osteogenic Differentiation Through Non-Canonical Wnt Signaling Pathway in Human Mesenchymal Stem Cells
45. Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature
46. Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia
47. Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension
48. Decrease in serum FGF23 levels after intravenous infusion of pamidronate in patients with osteogenesis imperfecta
49. Wnt signaling in bone metabolism
50. An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice
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