- Yale Pediatric EndocrinologyYale New Haven Children's Hospital1 Park Street, Ste WP2New Haven, CT 06504
- Yale Pediatric Endocrinology1 Long Wharf DriveSte 2nd FloorNew Haven, CT 06511
Thomas 1 Carpenter, MD
Biography
Thomas O. Carpenter, MD, has spent his career treating and researching metabolic bone diseases, which are disorders of bone development and strength. These conditions are often genetic in origin, and can also be caused by deficiencies of minerals or vitamin D. As director of the Yale School of Medicine Center for X-Linked Hypophosphatemia, his research focuses on this disorder, the most common inherited form of rickets, caused by low levels of phosphate in the blood. Phosphate is a mineral that is essential for the normal formation of bones and teeth.
“Scientific investigation could make a difference for children suffering from such poorly understood disorders,” says Dr. Carpenter. “Our care of families with metabolic bone diseases is a multidisciplinary approach, including endocrine, orthopedic and physical therapy specialists in a care-coordinated clinic. Moreover we work closely with internal medicine caregivers with similar interests, and provide a well-coordinated transition to adult care and care of adult family members affected with the inherited disorders.
Dr. Carpenter is a professor of pediatrics (endocrinology) and of orthopaedics and rehabilitation at Yale School of Medicine. He has also been recognized by Castle Connolly as a Top Doctor in Connecticut in the field of pediatric endocrinology.
Titles
- Professor of Pediatrics (Endocrinology) and of Orthopaedics and Rehabilitation and Clinical Professor of Nursing
- Director, Yale Center for X-Linked Hypophosphatemia
- Medical Director, Hospital Research Unit
Education & Training
- FellowHarvard Medical School, Children's Hospital, Boston (1983)
- Intern & ResidentUniversity of Alabama Hospitals, Birmingham (1980)
- MDUniversity of Alabama (1977)
Additional Information
- Distinguished Clinical Career Award: Yale School of Medicine and Yale Medicine (2022)
- Connecticut Academy of Science and Engineering: (2011)
- George Lowry Lecturer: University of Michigan Medical School, Ann Arbor (2006)
- Pfizer/Endocrine Society International Award for Excellence in Published Clinical Research in The Journal of Clinical Endocrinology & Metabolism: (2006)
- Twelfth annual Judson Van Wyk Lecturer: University of North Carolina School of Medicine, Chapel Hill (2006)
- AB of Pediatrics, Pediatric Endocrinology (1983, recertified: 1999)
- AB of Pediatrics, Pediatrics (1982)
- Eswarakumar AS, Ma NS, Ward LM, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Imel EA, Gagne J, Cody D, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth RS, Gordon R, Casey L, Carpenter TO. Long-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate Supplementation. Clinical Pediatrics 2020, 59: 1080-1085. PMID: 32666808, DOI: 10.1177/0009922820941097.
- Simpson CA, Zhang JH, Vanderschueren D, Fu L, Pennestri TC, Bouillon R, Cole DEC, Carpenter TO. Relationship of Total and Free 25-Hydroxyvitamin D to Biomarkers and Metabolic Indices in Healthy Children. The Journal Of Clinical Endocrinology And Metabolism 2020, 105 PMID: 31774125, PMCID: PMC7174047, DOI: 10.1210/clinem/dgz230.
- Wolf M, Rubin J, Achebe M, Econs MJ, Peacock M, Imel EA, Thomsen LL, Carpenter TO, Weber T, Brandenburg V, Zoller H. Effects of Iron Isomaltoside vs Ferric Carboxymaltose on Hypophosphatemia in Iron-Deficiency Anemia: Two Randomized Clinical Trials. JAMA 2020, 323: 432-443. PMID: 32016310, PMCID: PMC7042864, DOI: 10.1001/jama.2019.22450.
- Bloomhardt HM, Sint K, Ross WL, Rotatori J, Ness K, Robinson C, Carpenter TO, Chow EJ, Kadan-Lottick NS. Severity of reduced bone mineral density and risk of fractures in long-term survivors of childhood leukemia and lymphoma undergoing guideline-recommended surveillance for bone health. Cancer 2020, 126: 202-210. PMID: 31536650, DOI: 10.1002/cncr.32512.
- Niu A, Carpenter TO, Grams JM, Bozorgmehri S, Tommasini SM, Schafer AL, Canales BK. High dose vitamin D supplementation does not rescue bone loss following Roux-en-Y gastric bypass in female rats. Bone 2019, 127: 172-180. PMID: 31226531, PMCID: PMC6708762, DOI: 10.1016/j.bone.2019.06.015.
- Portale AA, Carpenter TO, Brandi ML, Briot K, Cheong HI, Cohen-Solal M, Crowley R, Jan De Beur S, Eastell R, Imanishi Y, Imel EA, Ing S, Ito N, Javaid M, Kamenicky P, Keen R, Kubota T, Lachmann R, Perwad F, Pitukcheewanont P, Ralston SH, Takeuchi Y, Tanaka H, Weber TJ, Yoo HW, Zhang L, Theodore-Oklota C, Mealiffe M, San Martin J, Insogna K. 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. Calcified Tissue International 2019, 105: 271-284. PMID: 31165191, DOI: 10.1007/s00223-019-00568-3.
- Chen A, Ro H, Mundra VRR, Joseph K, Brenner D, Carpenter TO, Rizk DV, Bergwitz C. Description of 5 Novel SLC34A3/NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria. Kidney International Reports 2019, 4: 1179-1186. PMID: 31440709, PMCID: PMC6698313, DOI: 10.1016/j.ekir.2019.05.004.
- Thacher TD, Pettifor JM, Tebben PJ, Creo AL, Skrinar A, Mao M, Chen CY, Chang T, San Martin J, Carpenter TO. Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score. Bone 2019, 122: 76-81. PMID: 30772600, DOI: 10.1016/j.bone.2019.02.010.
- Whyte MP, Carpenter TO, Gottesman GS, Mao M, Skrinar A, San Martin J, Imel EA. Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial. The Lancet. Diabetes & Endocrinology 2019, 7: 189-199. PMID: 30638856, DOI: 10.1016/S2213-8587(18)30338-3.
- Ang K, Sanchez Rangel E, Yuan Q, Wu D, Carpenter TO, Insogna K. Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation. Bone Reports 2018, 9: 154-158. PMID: 30364642, PMCID: PMC6197702, DOI: 10.1016/j.bonr.2018.09.001.
- Insogna KL, Briot K, Imel EA, Kamenický P, Ruppe MD, Portale AA, Weber T, Pitukcheewanont P, Cheong HI, Jan de Beur S, Imanishi Y, Ito N, Lachmann RH, Tanaka H, Perwad F, Zhang L, Chen CY, Theodore-Oklota C, Mealiffe M, San Martin J, Carpenter TO. A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti-FGF23 Antibody, in Adults With X-Linked Hypophosphatemia: Week 24 Primary Analysis. Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research 2018, 33: 1383-1393. PMID: 29947083, DOI: 10.1002/jbmr.3475.
- Sullivan R, Abraham A, Simpson C, Olear E, Carpenter T, Deng Y, Chen C, Insogna KL. Three-Month Randomized Clinical Trial of Nasal Calcitonin in Adults with X-linked Hypophosphatemia. Calcified Tissue International 2018, 102: 666-670. PMID: 29383408, PMCID: PMC5957766, DOI: 10.1007/s00223-017-0382-0.
- Carpenter TO, Whyte MP, Imel EA, Boot AM, Högler W, Linglart A, Padidela R, Van't Hoff W, Mao M, Chen CY, Skrinar A, Kakkis E, San Martin J, Portale AA. Burosumab Therapy in Children with X-Linked Hypophosphatemia. The New England Journal Of Medicine 2018, 378: 1987-1998. PMID: 29791829, DOI: 10.1056/NEJMoa1714641.
- Carpenter TO, Shaw NJ, Portale AA, Ward LM, Abrams SA, Pettifor JM. Rickets. Nature Reviews. Disease Primers 2017, 3: 17101. PMID: 29265106, DOI: 10.1038/nrdp.2017.101.
- Carpenter TO. CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations. The Journal Of Steroid Biochemistry And Molecular Biology 2017, 173: 337-340. PMID: 28093352, DOI: 10.1016/j.jsbmb.2017.01.006.
- Gonzalez Ballesteros LF, Ma NS, Gordon RJ, Ward L, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Gagne J, Stein R, Cody D, Simmons K, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth R, Imel EA, Casey L, Carpenter TO. Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children. Bone 2017, 97: 287-292. PMID: 28167344, PMCID: PMC5884631, DOI: 10.1016/j.bone.2017.02.003.
- Lee JC, Su SY, Changou CA, Yang RS, Tsai KS, Collins MT, Orwoll ES, Lin CY, Chen SH, Shih SR, Lee CH, Oda Y, Billings SD, Li CF, Nielsen GP, Konishi E, Petersson F, Carpenter TO, Sittampalam K, Huang HY, Folpe AL. Characterization of FN1-FGFR1 and novel FN1-FGF1 fusion genes in a large series of phosphaturic mesenchymal tumors. Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc 2016, 29: 1335-1346. PMID: 27443518, DOI: 10.1038/modpathol.2016.137.
- Pesta DH, Tsirigotis DN, Befroy DE, Caballero D, Jurczak MJ, Rahimi Y, Cline GW, Dufour S, Birkenfeld AL, Rothman DL, Carpenter TO, Insogna K, Petersen KF, Bergwitz C, Shulman GI. Hypophosphatemia promotes lower rates of muscle ATP synthesis. FASEB Journal : Official Publication Of The Federation Of American Societies For Experimental Biology 2016, 30: 3378-3387. PMID: 27338702, PMCID: PMC5024687, DOI: 10.1096/fj.201600473R.
- Belinsky GS, Sreekumar B, Andrejecsk JW, Saltzman WM, Gong J, Herzog RI, Lin S, Horsley V, Carpenter TO, Chung C. Pigment epithelium-derived factor restoration increases bone mass and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade. FASEB Journal : Official Publication Of The Federation Of American Societies For Experimental Biology 2016, 30: 2837-48. PMID: 27127101, PMCID: PMC4970601, DOI: 10.1096/fj.201500027R.
- Fu L, Borges CR, Rehder DS, Wong BY, Williams R, Carpenter TO, Cole DE. Characterization of additional vitamin D binding protein variants. The Journal Of Steroid Biochemistry And Molecular Biology 2016, 159: 54-9. PMID: 26924582, DOI: 10.1016/j.jsbmb.2016.02.022.
- Connor J, Olear EA, Insogna KL, Katz L, Baker S, Kaur R, Simpson CA, Sterpka J, Dubrow R, Zhang JH, Carpenter TO. Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease. The Journal Of Clinical Endocrinology And Metabolism 2015, 100: 3625-32. PMID: 26176801, PMCID: PMC4596038, DOI: 10.1210/JC.2015-2199.
- Imel EA, Zhang X, Ruppe MD, Weber TJ, Klausner MA, Ito T, Vergeire M, Humphrey JS, Glorieux FH, Portale AA, Insogna K, Peacock M, Carpenter TO. Prolonged Correction of Serum Phosphorus in Adults With X-Linked Hypophosphatemia Using Monthly Doses of KRN23. The Journal Of Clinical Endocrinology And Metabolism 2015, 100: 2565-73. PMID: 25919461, PMCID: PMC4495171, DOI: 10.1210/jc.2015-1551.
- Sharkey MS, Grunseich K, Carpenter TO. Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets. The Journal Of The American Academy Of Orthopaedic Surgeons 2015, 23: 433-42. PMID: 26040953, DOI: 10.5435/JAAOS-D-14-00082.
- Vanstone MB, Egan ME, Zhang JH, Carpenter TO. Association between serum 25-hydroxyvitamin D level and pulmonary exacerbations in cystic fibrosis. Pediatric Pulmonology 2015, 50: 441-6. PMID: 25657016, DOI: 10.1002/ppul.23161.
- Imel EA, Carpenter TO. A Practical Clinical Approach to Paediatric Phosphate Disorders. Endocrine Development 2015, 28: 134-161. PMID: 26138840, DOI: 10.1159/000381036.
- Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C. Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. Journal Of The American Society Of Nephrology : JASN 2014, 25: 2366-75. PMID: 24700880, PMCID: PMC4178443, DOI: 10.1681/ASN.2013101085.
- Carpenter TO, Olear EA, Zhang JH, Ellis BK, Simpson CA, Cheng D, Gundberg CM, Insogna KL. Effect of paricalcitol on circulating parathyroid hormone in X-linked hypophosphatemia: a randomized, double-blind, placebo-controlled study. The Journal Of Clinical Endocrinology And Metabolism 2014, 99: 3103-11. PMID: 25029424, PMCID: PMC4154090, DOI: 10.1210/jc.2014-2017.
- Canales BK, Schafer AL, Shoback DM, Carpenter TO. Gastric bypass in obese rats causes bone loss, vitamin D deficiency, metabolic acidosis, and elevated peptide YY. Surgery For Obesity And Related Diseases : Official Journal Of The American Society For Bariatric Surgery 2014, 10: 878-84. PMID: 24969093, PMCID: PMC4113565, DOI: 10.1016/j.soard.2014.01.021.
- Carpenter TO, Imel EA, Ruppe MD, Weber TJ, Klausner MA, Wooddell MM, Kawakami T, Ito T, Zhang X, Humphrey J, Insogna KL, Peacock M. Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. The Journal Of Clinical Investigation 2014, 124: 1587-97. PMID: 24569459, PMCID: PMC3973088, DOI: 10.1172/JCI72829.
- Gattu AK, Swenson ES, Iwakiri Y, Samuel VT, Troiano N, Berry R, Church CD, Rodeheffer MS, Carpenter TO, Chung C. Determination of mesenchymal stem cell fate by pigment epithelium-derived factor (PEDF) results in increased adiposity and reduced bone mineral content. FASEB Journal : Official Publication Of The Federation Of American Societies For Experimental Biology 2013, 27: 4384-94. PMID: 23887690, PMCID: PMC3804749, DOI: 10.1096/fj.13-232900.
- Rafaelsen SH, Raeder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, Bjerknes R. Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research 2013, 28: 1378-85. PMID: 23325605, DOI: 10.1002/jbmr.1850.
- Carpenter TO, Zhang JH, Parra E, Ellis BK, Simpson C, Lee WM, Balko J, Fu L, Wong BY, Cole DE. Vitamin D binding protein is a key determinant of 25-hydroxyvitamin D levels in infants and toddlers. Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research 2013, 28: 213-21. PMID: 22887780, PMCID: PMC3511814, DOI: 10.1002/jbmr.1735.
- Sun GE, Suer O, Carpenter TO, Tan CD, Li-Ng M. Heart failure in hypophosphatemic rickets: complications from high-dose phosphate therapy. Endocrine Practice : Official Journal Of The American College Of Endocrinology And The American Association Of Clinical Endocrinologists 2013, 19: e8-e11. PMID: 23186962, DOI: 10.4158/EP12184.CR.
- Vanstone MB, Oberfield SE, Shader L, Ardeshirpour L, Carpenter TO. Hypercalcemia in children receiving pharmacologic doses of vitamin D. Pediatrics 2012, 129: e1060-3. PMID: 22412034, PMCID: PMC8194455, DOI: 10.1542/peds.2011-1663.
- Carpenter TO. Take another CYP: confirming a novel mechanism for "idiopathic" hypercalcemia. The Journal Of Clinical Endocrinology And Metabolism 2012, 97: 768-71. PMID: 22392954, PMCID: PMC3319214, DOI: 10.1210/jc.2012-1110.
- Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. The Journal Of Clinical Endocrinology And Metabolism 2012, 97: E268-74. PMID: 22112808, PMCID: PMC3275367, DOI: 10.1210/jc.2011-1972.
- Abrams SA, Hawthorne KM, Rogers SP, Hicks PD, Carpenter TO. Effects of ethnicity and vitamin D supplementation on vitamin D status and changes in bone mineral content in infants. BMC Pediatrics 2012, 12: 6. PMID: 22248486, PMCID: PMC3271033, DOI: 10.1186/1471-2431-12-6.
- Carpenter TO, Herreros F, Zhang JH, Ellis BK, Simpson C, Torrealba-Fox E, Kim GJ, Savoye M, Held NA, Cole DE. Demographic, dietary, and biochemical determinants of vitamin D status in inner-city children. The American Journal Of Clinical Nutrition 2012, 95: 137-46. PMID: 22170368, PMCID: PMC3238457, DOI: 10.3945/ajcn.111.018721.
- Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician's guide to X-linked hypophosphatemia. Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research 2011, 26: 1381-8. PMID: 21538511, PMCID: PMC3157040, DOI: 10.1002/jbmr.340.
- Vanstone MB, Udelsman RD, Cheng DW, Carpenter TO. Rapid correction of bone mass after parathyroidectomy in an adolescent with primary hyperparathyroidism. The Journal Of Clinical Endocrinology And Metabolism 2011, 96: E347-50. PMID: 21106715, DOI: 10.1210/jc.2010-1723.
- Carpenter TO, Insogna KL, Zhang JH, Ellis B, Nieman S, Simpson C, Olear E, Gundberg CM. Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: circadian variance, effects of treatment, and relationship to parathyroid status. The Journal Of Clinical Endocrinology And Metabolism 2010, 95: E352-7. PMID: 20685863, PMCID: PMC2968736, DOI: 10.1210/jc.2010-0589.
- Suchy FJ, Brannon PM, Carpenter TO, Fernandez JR, Gilsanz V, Gould JB, Hall K, Hui SL, Lupton J, Mennella J, Miller NJ, Osganian SK, Sellmeyer DE, Wolf MA. National Institutes of Health Consensus Development Conference: lactose intolerance and health. Annals Of Internal Medicine 2010, 152: 792-6. PMID: 20404261, DOI: 10.7326/0003-4819-152-12-201006150-00248.
- Imel EA, DiMeglio LA, Hui SL, Carpenter TO, Econs MJ. Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations. The Journal Of Clinical Endocrinology And Metabolism 2010, 95: 1846-50. PMID: 20157195, PMCID: PMC2853995, DOI: 10.1210/jc.2009-1671.
- Suchy FJ, Brannon PM, Carpenter TO, Fernandez JR, Gilsanz V, Gould JB, Hall K, Hui SL, Lupton J, Mennella J, Miller NJ, Osganian SK, Sellmeyer DE, Wolf MA. NIH consensus development conference statement: Lactose intolerance and health. NIH Consensus And State-of-the-science Statements 2010, 27: 1-27. PMID: 20186234.
- Brownstein CA, Zhang J, Stillman A, Ellis B, Troiano N, Adams DJ, Gundberg CM, Lifton RP, Carpenter TO. Increased bone volume and correction of HYP mouse hypophosphatemia in the Klotho/HYP mouse. Endocrinology 2010, 151: 492-501. PMID: 19952276, PMCID: PMC2817612, DOI: 10.1210/en.2009-0564.
- Xiao L, Naganawa T, Lorenzo J, Carpenter TO, Coffin JD, Hurley MM. Nuclear isoforms of fibroblast growth factor 2 are novel inducers of hypophosphatemia via modulation of FGF23 and KLOTHO. The Journal Of Biological Chemistry 2010, 285: 2834-46. PMID: 19933269, PMCID: PMC2807337, DOI: 10.1074/jbc.M109.030577.
- Liang G, Katz LD, Insogna KL, Carpenter TO, Macica CM. Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. Calcified Tissue International 2009, 85: 235-46. PMID: 19609735, PMCID: PMC2988401, DOI: 10.1007/s00223-009-9270-6.
- Jaureguiberry G, Carpenter TO, Forman S, Jüppner H, Bergwitz C. A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. American Journal Of Physiology. Renal Physiology 2008, 295: F371-9. PMID: 18480181, PMCID: PMC2519180, DOI: 10.1152/ajprenal.00090.2008.
- Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter TO, Lifton RP. A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proceedings Of The National Academy Of Sciences Of The United States Of America 2008, 105: 3455-60. PMID: 18308935, PMCID: PMC2265125, DOI: 10.1073/pnas.0712361105.
- Gordon CM, Bachrach LK, Carpenter TO, Crabtree N, El-Hajj Fuleihan G, Kutilek S, Lorenc RS, Tosi LL, Ward KA, Ward LM, Kalkwarf HJ. Dual energy X-ray absorptiometry interpretation and reporting in children and adolescents: the 2007 ISCD Pediatric Official Positions. Journal Of Clinical Densitometry : The Official Journal Of The International Society For Clinical Densitometry 2008, 11: 43-58. PMID: 18442752, DOI: 10.1016/j.jocd.2007.12.005.
- Ardeshirpour L, Cole DE, Carpenter TO. Evaluation of bone and mineral disorders. Pediatric Endocrinology Reviews : PER 2007, 5 Suppl 1: 584-98. PMID: 18167468.
- Carpenter TO, DeLucia MC, Zhang JH, Bejnerowicz G, Tartamella L, Dziura J, Petersen KF, Befroy D, Cohen D. A randomized controlled study of effects of dietary magnesium oxide supplementation on bone mineral content in healthy girls. The Journal Of Clinical Endocrinology And Metabolism 2006, 91: 4866-72. PMID: 17018656, PMCID: PMC2995550, DOI: 10.1210/jc.2006-1391.
- Kelly TG, Shattuck TM, Reyes-Mugica M, Stewart AF, Simonds WF, Udelsman R, Arnold A, Carpenter TO. Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation. Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research 2006, 21: 1666-71. PMID: 16995822, DOI: 10.1359/jbmr.060702.
- Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. American Journal Of Human Genetics 2006, 78: 179-92. PMID: 16358214, PMCID: PMC1380228, DOI: 10.1086/499409.
- Abrams SA, Griffin IJ, Hawthorne KM, Gunn SK, Gundberg CM, Carpenter TO. Relationships among vitamin D levels, parathyroid hormone, and calcium absorption in young adolescents. The Journal Of Clinical Endocrinology And Metabolism 2005, 90: 5576-81. PMID: 16076940, PMCID: PMC1283091, DOI: 10.1210/jc.2005-1021.
- Sabbagh Y, Carpenter TO, Demay MB. Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 9637-42. PMID: 15976027, PMCID: PMC1172249, DOI: 10.1073/pnas.0502249102.
- Cherniske EM, Carpenter TO, Klaiman C, Young E, Bregman J, Insogna K, Schultz RT, Pober BR. Multisystem study of 20 older adults with Williams syndrome. American Journal Of Medical Genetics. Part A 2004, 131: 255-64. PMID: 15534874, DOI: 10.1002/ajmg.a.30400.
- DeLucia MC, Mitnick ME, Carpenter TO. Nutritional rickets with normal circulating 25-hydroxyvitamin D: a call for reexamining the role of dietary calcium intake in North American infants. The Journal Of Clinical Endocrinology And Metabolism 2003, 88: 3539-45. PMID: 12915633, DOI: 10.1210/jc.2002-021935.
- Carpenter TO. Oncogenic osteomalacia--a complex dance of factors. The New England Journal Of Medicine 2003, 348: 1705-8. PMID: 12711747, DOI: 10.1056/NEJMe030037.
- Yale Pediatric EndocrinologyYale New Haven Children's Hospital1 Park Street, Ste WP2New Haven, CT 06504
- Yale Pediatric Endocrinology1 Long Wharf DriveSte 2nd FloorNew Haven, CT 06511
Biography
Thomas O. Carpenter, MD, has spent his career treating and researching metabolic bone diseases, which are disorders of bone development and strength. These conditions are often genetic in origin, and can also be caused by deficiencies of minerals or vitamin D. As director of the Yale School of Medicine Center for X-Linked Hypophosphatemia, his research focuses on this disorder, the most common inherited form of rickets, caused by low levels of phosphate in the blood. Phosphate is a mineral that is essential for the normal formation of bones and teeth.
“Scientific investigation could make a difference for children suffering from such poorly understood disorders,” says Dr. Carpenter. “Our care of families with metabolic bone diseases is a multidisciplinary approach, including endocrine, orthopedic and physical therapy specialists in a care-coordinated clinic. Moreover we work closely with internal medicine caregivers with similar interests, and provide a well-coordinated transition to adult care and care of adult family members affected with the inherited disorders.
Dr. Carpenter is a professor of pediatrics (endocrinology) and of orthopaedics and rehabilitation at Yale School of Medicine. He has also been recognized by Castle Connolly as a Top Doctor in Connecticut in the field of pediatric endocrinology.
Titles
- Professor of Pediatrics (Endocrinology) and of Orthopaedics and Rehabilitation and Clinical Professor of Nursing
- Director, Yale Center for X-Linked Hypophosphatemia
- Medical Director, Hospital Research Unit
Education & Training
- FellowHarvard Medical School, Children's Hospital, Boston (1983)
- Intern & ResidentUniversity of Alabama Hospitals, Birmingham (1980)
- MDUniversity of Alabama (1977)
Additional Information
- Distinguished Clinical Career Award: Yale School of Medicine and Yale Medicine (2022)
- Connecticut Academy of Science and Engineering: (2011)
- George Lowry Lecturer: University of Michigan Medical School, Ann Arbor (2006)
- Pfizer/Endocrine Society International Award for Excellence in Published Clinical Research in The Journal of Clinical Endocrinology & Metabolism: (2006)
- Twelfth annual Judson Van Wyk Lecturer: University of North Carolina School of Medicine, Chapel Hill (2006)
- AB of Pediatrics, Pediatric Endocrinology (1983, recertified: 1999)
- AB of Pediatrics, Pediatrics (1982)
- Eswarakumar AS, Ma NS, Ward LM, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Imel EA, Gagne J, Cody D, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth RS, Gordon R, Casey L, Carpenter TO. Long-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate Supplementation. Clinical Pediatrics 2020, 59: 1080-1085. PMID: 32666808, DOI: 10.1177/0009922820941097.
- Simpson CA, Zhang JH, Vanderschueren D, Fu L, Pennestri TC, Bouillon R, Cole DEC, Carpenter TO. Relationship of Total and Free 25-Hydroxyvitamin D to Biomarkers and Metabolic Indices in Healthy Children. The Journal Of Clinical Endocrinology And Metabolism 2020, 105 PMID: 31774125, PMCID: PMC7174047, DOI: 10.1210/clinem/dgz230.
- Wolf M, Rubin J, Achebe M, Econs MJ, Peacock M, Imel EA, Thomsen LL, Carpenter TO, Weber T, Brandenburg V, Zoller H. Effects of Iron Isomaltoside vs Ferric Carboxymaltose on Hypophosphatemia in Iron-Deficiency Anemia: Two Randomized Clinical Trials. JAMA 2020, 323: 432-443. PMID: 32016310, PMCID: PMC7042864, DOI: 10.1001/jama.2019.22450.
- Bloomhardt HM, Sint K, Ross WL, Rotatori J, Ness K, Robinson C, Carpenter TO, Chow EJ, Kadan-Lottick NS. Severity of reduced bone mineral density and risk of fractures in long-term survivors of childhood leukemia and lymphoma undergoing guideline-recommended surveillance for bone health. Cancer 2020, 126: 202-210. PMID: 31536650, DOI: 10.1002/cncr.32512.
- Niu A, Carpenter TO, Grams JM, Bozorgmehri S, Tommasini SM, Schafer AL, Canales BK. High dose vitamin D supplementation does not rescue bone loss following Roux-en-Y gastric bypass in female rats. Bone 2019, 127: 172-180. PMID: 31226531, PMCID: PMC6708762, DOI: 10.1016/j.bone.2019.06.015.
- Portale AA, Carpenter TO, Brandi ML, Briot K, Cheong HI, Cohen-Solal M, Crowley R, Jan De Beur S, Eastell R, Imanishi Y, Imel EA, Ing S, Ito N, Javaid M, Kamenicky P, Keen R, Kubota T, Lachmann R, Perwad F, Pitukcheewanont P, Ralston SH, Takeuchi Y, Tanaka H, Weber TJ, Yoo HW, Zhang L, Theodore-Oklota C, Mealiffe M, San Martin J, Insogna K. 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. Calcified Tissue International 2019, 105: 271-284. PMID: 31165191, DOI: 10.1007/s00223-019-00568-3.
- Chen A, Ro H, Mundra VRR, Joseph K, Brenner D, Carpenter TO, Rizk DV, Bergwitz C. Description of 5 Novel SLC34A3/NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria. Kidney International Reports 2019, 4: 1179-1186. PMID: 31440709, PMCID: PMC6698313, DOI: 10.1016/j.ekir.2019.05.004.
- Thacher TD, Pettifor JM, Tebben PJ, Creo AL, Skrinar A, Mao M, Chen CY, Chang T, San Martin J, Carpenter TO. Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score. Bone 2019, 122: 76-81. PMID: 30772600, DOI: 10.1016/j.bone.2019.02.010.
- Whyte MP, Carpenter TO, Gottesman GS, Mao M, Skrinar A, San Martin J, Imel EA. Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial. The Lancet. Diabetes & Endocrinology 2019, 7: 189-199. PMID: 30638856, DOI: 10.1016/S2213-8587(18)30338-3.
- Ang K, Sanchez Rangel E, Yuan Q, Wu D, Carpenter TO, Insogna K. Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation. Bone Reports 2018, 9: 154-158. PMID: 30364642, PMCID: PMC6197702, DOI: 10.1016/j.bonr.2018.09.001.
- Insogna KL, Briot K, Imel EA, Kamenický P, Ruppe MD, Portale AA, Weber T, Pitukcheewanont P, Cheong HI, Jan de Beur S, Imanishi Y, Ito N, Lachmann RH, Tanaka H, Perwad F, Zhang L, Chen CY, Theodore-Oklota C, Mealiffe M, San Martin J, Carpenter TO. A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti-FGF23 Antibody, in Adults With X-Linked Hypophosphatemia: Week 24 Primary Analysis. Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research 2018, 33: 1383-1393. PMID: 29947083, DOI: 10.1002/jbmr.3475.
- Sullivan R, Abraham A, Simpson C, Olear E, Carpenter T, Deng Y, Chen C, Insogna KL. Three-Month Randomized Clinical Trial of Nasal Calcitonin in Adults with X-linked Hypophosphatemia. Calcified Tissue International 2018, 102: 666-670. PMID: 29383408, PMCID: PMC5957766, DOI: 10.1007/s00223-017-0382-0.
- Carpenter TO, Whyte MP, Imel EA, Boot AM, Högler W, Linglart A, Padidela R, Van't Hoff W, Mao M, Chen CY, Skrinar A, Kakkis E, San Martin J, Portale AA. Burosumab Therapy in Children with X-Linked Hypophosphatemia. The New England Journal Of Medicine 2018, 378: 1987-1998. PMID: 29791829, DOI: 10.1056/NEJMoa1714641.
- Carpenter TO, Shaw NJ, Portale AA, Ward LM, Abrams SA, Pettifor JM. Rickets. Nature Reviews. Disease Primers 2017, 3: 17101. PMID: 29265106, DOI: 10.1038/nrdp.2017.101.
- Carpenter TO. CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations. The Journal Of Steroid Biochemistry And Molecular Biology 2017, 173: 337-340. PMID: 28093352, DOI: 10.1016/j.jsbmb.2017.01.006.
- Gonzalez Ballesteros LF, Ma NS, Gordon RJ, Ward L, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Gagne J, Stein R, Cody D, Simmons K, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth R, Imel EA, Casey L, Carpenter TO. Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children. Bone 2017, 97: 287-292. PMID: 28167344, PMCID: PMC5884631, DOI: 10.1016/j.bone.2017.02.003.
- Lee JC, Su SY, Changou CA, Yang RS, Tsai KS, Collins MT, Orwoll ES, Lin CY, Chen SH, Shih SR, Lee CH, Oda Y, Billings SD, Li CF, Nielsen GP, Konishi E, Petersson F, Carpenter TO, Sittampalam K, Huang HY, Folpe AL. Characterization of FN1-FGFR1 and novel FN1-FGF1 fusion genes in a large series of phosphaturic mesenchymal tumors. Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc 2016, 29: 1335-1346. PMID: 27443518, DOI: 10.1038/modpathol.2016.137.
- Pesta DH, Tsirigotis DN, Befroy DE, Caballero D, Jurczak MJ, Rahimi Y, Cline GW, Dufour S, Birkenfeld AL, Rothman DL, Carpenter TO, Insogna K, Petersen KF, Bergwitz C, Shulman GI. Hypophosphatemia promotes lower rates of muscle ATP synthesis. FASEB Journal : Official Publication Of The Federation Of American Societies For Experimental Biology 2016, 30: 3378-3387. PMID: 27338702, PMCID: PMC5024687, DOI: 10.1096/fj.201600473R.
- Belinsky GS, Sreekumar B, Andrejecsk JW, Saltzman WM, Gong J, Herzog RI, Lin S, Horsley V, Carpenter TO, Chung C. Pigment epithelium-derived factor restoration increases bone mass and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade. FASEB Journal : Official Publication Of The Federation Of American Societies For Experimental Biology 2016, 30: 2837-48. PMID: 27127101, PMCID: PMC4970601, DOI: 10.1096/fj.201500027R.
- Fu L, Borges CR, Rehder DS, Wong BY, Williams R, Carpenter TO, Cole DE. Characterization of additional vitamin D binding protein variants. The Journal Of Steroid Biochemistry And Molecular Biology 2016, 159: 54-9. PMID: 26924582, DOI: 10.1016/j.jsbmb.2016.02.022.
- Connor J, Olear EA, Insogna KL, Katz L, Baker S, Kaur R, Simpson CA, Sterpka J, Dubrow R, Zhang JH, Carpenter TO. Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease. The Journal Of Clinical Endocrinology And Metabolism 2015, 100: 3625-32. PMID: 26176801, PMCID: PMC4596038, DOI: 10.1210/JC.2015-2199.
- Imel EA, Zhang X, Ruppe MD, Weber TJ, Klausner MA, Ito T, Vergeire M, Humphrey JS, Glorieux FH, Portale AA, Insogna K, Peacock M, Carpenter TO. Prolonged Correction of Serum Phosphorus in Adults With X-Linked Hypophosphatemia Using Monthly Doses of KRN23. The Journal Of Clinical Endocrinology And Metabolism 2015, 100: 2565-73. PMID: 25919461, PMCID: PMC4495171, DOI: 10.1210/jc.2015-1551.
- Sharkey MS, Grunseich K, Carpenter TO. Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets. The Journal Of The American Academy Of Orthopaedic Surgeons 2015, 23: 433-42. PMID: 26040953, DOI: 10.5435/JAAOS-D-14-00082.
- Vanstone MB, Egan ME, Zhang JH, Carpenter TO. Association between serum 25-hydroxyvitamin D level and pulmonary exacerbations in cystic fibrosis. Pediatric Pulmonology 2015, 50: 441-6. PMID: 25657016, DOI: 10.1002/ppul.23161.
- Imel EA, Carpenter TO. A Practical Clinical Approach to Paediatric Phosphate Disorders. Endocrine Development 2015, 28: 134-161. PMID: 26138840, DOI: 10.1159/000381036.
- Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C. Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. Journal Of The American Society Of Nephrology : JASN 2014, 25: 2366-75. PMID: 24700880, PMCID: PMC4178443, DOI: 10.1681/ASN.2013101085.
- Carpenter TO, Olear EA, Zhang JH, Ellis BK, Simpson CA, Cheng D, Gundberg CM, Insogna KL. Effect of paricalcitol on circulating parathyroid hormone in X-linked hypophosphatemia: a randomized, double-blind, placebo-controlled study. The Journal Of Clinical Endocrinology And Metabolism 2014, 99: 3103-11. PMID: 25029424, PMCID: PMC4154090, DOI: 10.1210/jc.2014-2017.
- Canales BK, Schafer AL, Shoback DM, Carpenter TO. Gastric bypass in obese rats causes bone loss, vitamin D deficiency, metabolic acidosis, and elevated peptide YY. Surgery For Obesity And Related Diseases : Official Journal Of The American Society For Bariatric Surgery 2014, 10: 878-84. PMID: 24969093, PMCID: PMC4113565, DOI: 10.1016/j.soard.2014.01.021.
- Carpenter TO, Imel EA, Ruppe MD, Weber TJ, Klausner MA, Wooddell MM, Kawakami T, Ito T, Zhang X, Humphrey J, Insogna KL, Peacock M. Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. The Journal Of Clinical Investigation 2014, 124: 1587-97. PMID: 24569459, PMCID: PMC3973088, DOI: 10.1172/JCI72829.
- Gattu AK, Swenson ES, Iwakiri Y, Samuel VT, Troiano N, Berry R, Church CD, Rodeheffer MS, Carpenter TO, Chung C. Determination of mesenchymal stem cell fate by pigment epithelium-derived factor (PEDF) results in increased adiposity and reduced bone mineral content. FASEB Journal : Official Publication Of The Federation Of American Societies For Experimental Biology 2013, 27: 4384-94. PMID: 23887690, PMCID: PMC3804749, DOI: 10.1096/fj.13-232900.
- Rafaelsen SH, Raeder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, Bjerknes R. Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research 2013, 28: 1378-85. PMID: 23325605, DOI: 10.1002/jbmr.1850.
- Carpenter TO, Zhang JH, Parra E, Ellis BK, Simpson C, Lee WM, Balko J, Fu L, Wong BY, Cole DE. Vitamin D binding protein is a key determinant of 25-hydroxyvitamin D levels in infants and toddlers. Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research 2013, 28: 213-21. PMID: 22887780, PMCID: PMC3511814, DOI: 10.1002/jbmr.1735.
- Sun GE, Suer O, Carpenter TO, Tan CD, Li-Ng M. Heart failure in hypophosphatemic rickets: complications from high-dose phosphate therapy. Endocrine Practice : Official Journal Of The American College Of Endocrinology And The American Association Of Clinical Endocrinologists 2013, 19: e8-e11. PMID: 23186962, DOI: 10.4158/EP12184.CR.
- Vanstone MB, Oberfield SE, Shader L, Ardeshirpour L, Carpenter TO. Hypercalcemia in children receiving pharmacologic doses of vitamin D. Pediatrics 2012, 129: e1060-3. PMID: 22412034, PMCID: PMC8194455, DOI: 10.1542/peds.2011-1663.
- Carpenter TO. Take another CYP: confirming a novel mechanism for "idiopathic" hypercalcemia. The Journal Of Clinical Endocrinology And Metabolism 2012, 97: 768-71. PMID: 22392954, PMCID: PMC3319214, DOI: 10.1210/jc.2012-1110.
- Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. The Journal Of Clinical Endocrinology And Metabolism 2012, 97: E268-74. PMID: 22112808, PMCID: PMC3275367, DOI: 10.1210/jc.2011-1972.
- Abrams SA, Hawthorne KM, Rogers SP, Hicks PD, Carpenter TO. Effects of ethnicity and vitamin D supplementation on vitamin D status and changes in bone mineral content in infants. BMC Pediatrics 2012, 12: 6. PMID: 22248486, PMCID: PMC3271033, DOI: 10.1186/1471-2431-12-6.
- Carpenter TO, Herreros F, Zhang JH, Ellis BK, Simpson C, Torrealba-Fox E, Kim GJ, Savoye M, Held NA, Cole DE. Demographic, dietary, and biochemical determinants of vitamin D status in inner-city children. The American Journal Of Clinical Nutrition 2012, 95: 137-46. PMID: 22170368, PMCID: PMC3238457, DOI: 10.3945/ajcn.111.018721.
- Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician's guide to X-linked hypophosphatemia. Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research 2011, 26: 1381-8. PMID: 21538511, PMCID: PMC3157040, DOI: 10.1002/jbmr.340.
- Vanstone MB, Udelsman RD, Cheng DW, Carpenter TO. Rapid correction of bone mass after parathyroidectomy in an adolescent with primary hyperparathyroidism. The Journal Of Clinical Endocrinology And Metabolism 2011, 96: E347-50. PMID: 21106715, DOI: 10.1210/jc.2010-1723.
- Carpenter TO, Insogna KL, Zhang JH, Ellis B, Nieman S, Simpson C, Olear E, Gundberg CM. Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: circadian variance, effects of treatment, and relationship to parathyroid status. The Journal Of Clinical Endocrinology And Metabolism 2010, 95: E352-7. PMID: 20685863, PMCID: PMC2968736, DOI: 10.1210/jc.2010-0589.
- Suchy FJ, Brannon PM, Carpenter TO, Fernandez JR, Gilsanz V, Gould JB, Hall K, Hui SL, Lupton J, Mennella J, Miller NJ, Osganian SK, Sellmeyer DE, Wolf MA. National Institutes of Health Consensus Development Conference: lactose intolerance and health. Annals Of Internal Medicine 2010, 152: 792-6. PMID: 20404261, DOI: 10.7326/0003-4819-152-12-201006150-00248.
- Imel EA, DiMeglio LA, Hui SL, Carpenter TO, Econs MJ. Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations. The Journal Of Clinical Endocrinology And Metabolism 2010, 95: 1846-50. PMID: 20157195, PMCID: PMC2853995, DOI: 10.1210/jc.2009-1671.
- Suchy FJ, Brannon PM, Carpenter TO, Fernandez JR, Gilsanz V, Gould JB, Hall K, Hui SL, Lupton J, Mennella J, Miller NJ, Osganian SK, Sellmeyer DE, Wolf MA. NIH consensus development conference statement: Lactose intolerance and health. NIH Consensus And State-of-the-science Statements 2010, 27: 1-27. PMID: 20186234.
- Brownstein CA, Zhang J, Stillman A, Ellis B, Troiano N, Adams DJ, Gundberg CM, Lifton RP, Carpenter TO. Increased bone volume and correction of HYP mouse hypophosphatemia in the Klotho/HYP mouse. Endocrinology 2010, 151: 492-501. PMID: 19952276, PMCID: PMC2817612, DOI: 10.1210/en.2009-0564.
- Xiao L, Naganawa T, Lorenzo J, Carpenter TO, Coffin JD, Hurley MM. Nuclear isoforms of fibroblast growth factor 2 are novel inducers of hypophosphatemia via modulation of FGF23 and KLOTHO. The Journal Of Biological Chemistry 2010, 285: 2834-46. PMID: 19933269, PMCID: PMC2807337, DOI: 10.1074/jbc.M109.030577.
- Liang G, Katz LD, Insogna KL, Carpenter TO, Macica CM. Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. Calcified Tissue International 2009, 85: 235-46. PMID: 19609735, PMCID: PMC2988401, DOI: 10.1007/s00223-009-9270-6.
- Jaureguiberry G, Carpenter TO, Forman S, Jüppner H, Bergwitz C. A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. American Journal Of Physiology. Renal Physiology 2008, 295: F371-9. PMID: 18480181, PMCID: PMC2519180, DOI: 10.1152/ajprenal.00090.2008.
- Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter TO, Lifton RP. A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proceedings Of The National Academy Of Sciences Of The United States Of America 2008, 105: 3455-60. PMID: 18308935, PMCID: PMC2265125, DOI: 10.1073/pnas.0712361105.
- Gordon CM, Bachrach LK, Carpenter TO, Crabtree N, El-Hajj Fuleihan G, Kutilek S, Lorenc RS, Tosi LL, Ward KA, Ward LM, Kalkwarf HJ. Dual energy X-ray absorptiometry interpretation and reporting in children and adolescents: the 2007 ISCD Pediatric Official Positions. Journal Of Clinical Densitometry : The Official Journal Of The International Society For Clinical Densitometry 2008, 11: 43-58. PMID: 18442752, DOI: 10.1016/j.jocd.2007.12.005.
- Ardeshirpour L, Cole DE, Carpenter TO. Evaluation of bone and mineral disorders. Pediatric Endocrinology Reviews : PER 2007, 5 Suppl 1: 584-98. PMID: 18167468.
- Carpenter TO, DeLucia MC, Zhang JH, Bejnerowicz G, Tartamella L, Dziura J, Petersen KF, Befroy D, Cohen D. A randomized controlled study of effects of dietary magnesium oxide supplementation on bone mineral content in healthy girls. The Journal Of Clinical Endocrinology And Metabolism 2006, 91: 4866-72. PMID: 17018656, PMCID: PMC2995550, DOI: 10.1210/jc.2006-1391.
- Kelly TG, Shattuck TM, Reyes-Mugica M, Stewart AF, Simonds WF, Udelsman R, Arnold A, Carpenter TO. Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation. Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research 2006, 21: 1666-71. PMID: 16995822, DOI: 10.1359/jbmr.060702.
- Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. American Journal Of Human Genetics 2006, 78: 179-92. PMID: 16358214, PMCID: PMC1380228, DOI: 10.1086/499409.
- Abrams SA, Griffin IJ, Hawthorne KM, Gunn SK, Gundberg CM, Carpenter TO. Relationships among vitamin D levels, parathyroid hormone, and calcium absorption in young adolescents. The Journal Of Clinical Endocrinology And Metabolism 2005, 90: 5576-81. PMID: 16076940, PMCID: PMC1283091, DOI: 10.1210/jc.2005-1021.
- Sabbagh Y, Carpenter TO, Demay MB. Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 9637-42. PMID: 15976027, PMCID: PMC1172249, DOI: 10.1073/pnas.0502249102.
- Cherniske EM, Carpenter TO, Klaiman C, Young E, Bregman J, Insogna K, Schultz RT, Pober BR. Multisystem study of 20 older adults with Williams syndrome. American Journal Of Medical Genetics. Part A 2004, 131: 255-64. PMID: 15534874, DOI: 10.1002/ajmg.a.30400.
- DeLucia MC, Mitnick ME, Carpenter TO. Nutritional rickets with normal circulating 25-hydroxyvitamin D: a call for reexamining the role of dietary calcium intake in North American infants. The Journal Of Clinical Endocrinology And Metabolism 2003, 88: 3539-45. PMID: 12915633, DOI: 10.1210/jc.2002-021935.
- Carpenter TO. Oncogenic osteomalacia--a complex dance of factors. The New England Journal Of Medicine 2003, 348: 1705-8. PMID: 12711747, DOI: 10.1056/NEJMe030037.
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