176 results on '"Kitaoka, Taichi"'
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2. 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
3. 4-Phenylbutyric acid enhances the mineralization of osteogenesis imperfecta iPSC-derived osteoblasts
4. Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome
5. Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data
6. Impact of fracture characteristics and disease-specific complications on health-related quality of life in osteogenesis imperfecta
7. Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy
8. Physical, Mental, and Social Problems of Adolescent and Adult Patients with Achondroplasia
9. Oral manifestations of Japanese patients with osteogenesis imperfecta
10. 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
11. Successful induction of sclerostin in human-derived fibroblasts by 4 transcription factors and its regulation by parathyroid hormone, hypoxia, and prostaglandin E2
12. A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4
13. Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia
14. 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
15. Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth
16. Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature
17. Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia
18. Inconvenience and adaptation in Japanese adult achondroplasia and hypochondroplasia: A cross-sectional study
19. A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta
20. Decrease in serum FGF23 levels after intravenous infusion of pamidronate in patients with osteogenesis imperfecta
21. Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter
22. Neonatal cholestasis can be the first symptom of McCune–Albright syndrome: A case report
23. Two Novel Mutations of the Hepatocyte Nuclear Factor-4 alpha in Maturity-Onset Diabetes of the Young 1 in Japan
24. Health-related Quality of Life in Adult Patients with Multiple Epiphyseal Dysplasia and Spondyloepiphyseal Dysplasia
25. Alkaline phosphatase in pediatric patients with genu varum caused by vitamin D-deficient rickets
26. Circulating Levels of Soluble α-Klotho Are Markedly Elevated in Human Umbilical Cord Blood
27. Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms
28. Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome
29. Clinical Practice Guidelines for Hypophosphatasia*
30. Clinical Practice Guidelines for Achondroplasia*
31. Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy
32. Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types
33. Impact of fracture characteristics and disease-specific complications on health-related quality of life in osteogenesis imperfecta
34. Biochemical and genetic analysis in patients with odontohypophosphatasia in Japan
35. Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types
36. Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients
37. Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report
38. Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy.
39. Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D
40. Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy
41. Incidence rate and characteristics of symptomatic vitamin D deficiency in children: a nationwide survey in Japan
42. IgG subclass staining in renal biopsy specimen in a pediatric patient with drug induced tubulointerstitial nephritis
43. Early exfoliation of permanent tooth in patient with hypophosphatasia
44. Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial
45. Common risk variants in NPHS1and TNFSF15are associated with childhood steroid-sensitive nephrotic syndrome
46. Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome
47. Endocrinological and phenotype evaluation in a patient with acrodysostosis
48. Report of Two Dental Patients Diagnosed with Hypophosphatasia
49. Pheochromocytoma complicated by cyanotic congenital heart disease: a case report
50. Acromesomelic dysplasia, type maroteaux caused by novel loss‐of‐function mutations of the NPR2 gene: Three case reports
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