537 results on '"Carpenter, Thomas O"'
Search Results
2. Impact of burosumab on lower limb alignment in children with X-linked hypophosphatemia
3. Klotho Overexpression Is Frequently Associated With Upstream Rearrangements in Fusion-Negative Phosphaturic Mesenchymal Tumors of Bone and Sinonasal Tract
4. Genetic variants in the vitamin D pathway and their association with vitamin D metabolite levels: detailed studies of an inner-city pediatric population suggest a modest but significant effect in early childhood.
5. The efficacy and safety of burosumab in two patients with cutaneous skeletal hypophosphatemia syndrome
6. Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries.
7. ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.
8. Phosphorus bioaccessibility measured in four amino acid–based formulas using in-vitro batch digestion translates well into phosphorus bioavailability in mice
9. Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization
10. Frequent overexpression of klotho in fusion-negative phosphaturic mesenchymal tumors with tumorigenic implications
11. ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency
12. Hypercalcaemic and Hypocalcaemic Syndromes in Children
13. Rickets: The Skeletal Disorders of Impaired Calcium or Phosphate Availability
14. High dose vitamin D supplementation does not rescue bone loss following Roux-en-Y gastric bypass in female rats
15. Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score
16. Efficacy and safety of burosumab in children aged 1–4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial
17. Gastric bypass in obese rats causes bone loss, vitamin D deficiency, metabolic acidosis, and elevated peptide YY
18. Circulating Levels of Leptin and Lipocalin-2 in Patients With X-Linked Hypophosphatemia
19. A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia
20. List of Contributors
21. Phosphorus homeostasis and related disorders
22. 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
23. Hypophosphatemia Leads to Rickets by Impairing Caspase-Mediated Apoptosis of Hypertrophic Chondrocytes
24. Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia
25. Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children
26. Single Dose Of Bisphosphonate To Treat Infantile Hypercalcemia
27. X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variant
28. Characterization of FN1–FGFR1 and novel FN1–FGF1 fusion genes in a large series of phosphaturic mesenchymal tumors
29. An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis
30. List of Contributors
31. The Hypocalcemic Disorders
32. Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3)
33. X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variant
34. Rickets: The Skeletal Disorders of Impaired Calcium or Phosphate Availability
35. Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia
36. Effect of vitamin D–binding protein genotype on the development of asthma in children
37. Rickets : The Skeletal Disorders of Impaired Calcium or Phosphate Availability
38. Hypophosphatemic Rickets: Lessons from Disrupted FGF23 Control of Phosphorus Homeostasis
39. Demographic, dietary, and biochemical determinants of vitamin D status in inner-city children
40. Systematic characterization of enzyme activity on ENPP1 deficiency disease phenotype
41. Response of enthesopathy in ENPP1 deficiency to enzyme replacement therapy in murine models and enthesopathy comorbidities and quality of life in ENPP1‐deficient adults
42. A Translocation Causing Increased α-Klotho Level Results in Hypophosphatemic Rickets and Hyperparathyroidism
43. Investigating the mechanism for maintaining eucalcemia despite immobility and anuria in the hibernating American black bear (Ursus americanus)
44. Bioavailability and Short-Term Tolerability of Alendronate in Glucocorticoid-Treated Children
45. Cover, Volume 43, Issue 2
46. Musculoskeletal Comorbidities and Quality of Life in ENPP1‐Deficient Adults and the Response of Enthesopathy to Enzyme Replacement Therapy in Murine Models
47. Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)
48. Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia
49. Population Pharmacokinetic And Pharmacodynamic Analyses From a 4-Month Intradose Escalation and Its Subsequent 12-Month Dose Titration Studies for a Human Monoclonal Anti-FGF23 Antibody (KRN23) in Adults With X-Linked Hypophosphatemia
50. Pharmacokinetics and pharmacodynamics of a human monoclonal anti-FGF23 antibody (KRN23) in the first multiple ascending-dose trial treating adults with X-linked hypophosphatemia
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