558 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. Healthcare Resource Use Associated With Tumor-Induced Osteomalacia: A Literature Review.
7. Phosphorus bioaccessibility measured in four amino acid–based formulas using in-vitro batch digestion translates well into phosphorus bioavailability in mice
8. Healthcare Resource Use Associated With Tumor-Induced Osteomalacia: A Literature Review
9. Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization
10. Different elemental infant formulas show equivalent phosphorus and calcium bioavailability in healthy volunteers
11. Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries.
12. ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.
13. Frequent overexpression of klotho in fusion-negative phosphaturic mesenchymal tumors with tumorigenic implications
14. Hypercalcaemic and Hypocalcaemic Syndromes in Children
15. High dose vitamin D supplementation does not rescue bone loss following Roux-en-Y gastric bypass in female rats
16. Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score
17. Efficacy and safety of burosumab in children aged 1–4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial
18. ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency
19. Gastric bypass in obese rats causes bone loss, vitamin D deficiency, metabolic acidosis, and elevated peptide YY
20. Rickets: The Skeletal Disorders of Impaired Calcium or Phosphate Availability
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. Hypophosphatemia Leads to Rickets by Impairing Caspase-Mediated Apoptosis of Hypertrophic Chondrocytes
23. Circulating Levels of Leptin and Lipocalin-2 in Patients With X-Linked Hypophosphatemia
24. A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia
25. CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations
26. Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children
27. List of Contributors
28. Phosphorus homeostasis and related disorders
29. Single Dose Of Bisphosphonate To Treat Infantile Hypercalcemia
30. Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia
31. Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia
32. Characterization of FN1–FGFR1 and novel FN1–FGF1 fusion genes in a large series of phosphaturic mesenchymal tumors
33. Characterization of additional vitamin D binding protein variants
34. An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis
35. X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variant
36. X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variant
37. Rickets: The Skeletal Disorders of Impaired Calcium or Phosphate Availability
38. 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)
39. Effect of vitamin D–binding protein genotype on the development of asthma in children
40. List of Contributors
41. The Hypocalcemic Disorders
42. Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia
43. Rickets : The Skeletal Disorders of Impaired Calcium or Phosphate Availability
44. Hypophosphatemic Rickets: Lessons from Disrupted FGF23 Control of Phosphorus Homeostasis
45. Demographic, dietary, and biochemical determinants of vitamin D status in inner-city children
46. A Translocation Causing Increased α-Klotho Level Results in Hypophosphatemic Rickets and Hyperparathyroidism
47. Investigating the mechanism for maintaining eucalcemia despite immobility and anuria in the hibernating American black bear (Ursus americanus)
48. Bioavailability and Short-Term Tolerability of Alendronate in Glucocorticoid-Treated Children
49. Systematic characterization of enzyme activity on ENPP1 deficiency disease phenotype
50. Response of enthesopathy in ENPP1 deficiency to enzyme replacement therapy in murine models and enthesopathy comorbidities and quality of life in ENPP1‐deficient adults
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