Thomas Carpenter, MD

• Clemens Bergwitz
• Demetrios Braddock
• James Dziura
• Karl Insogna
• Marie Egan
• Peining Li
• Pnina Weiss
• Raimund Herzog
• Steven Tommasini
• Susan D. Boulware
• Valerie Horsley
• Yasuko Iwakiri

Endocrinology; Hypophosphatemia, Familial; Musculoskeletal Diseases; Orthopedics; Pediatrics; Vitamin D; Bone Density

• X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variantSoto Barros J, Sanchez S, Cabral K, Beggs A, Agrawal P, Genetti C, Brownstein C, Carpenter T. X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variant. Bone 2023, 172: 116763. PMID: 37059315, PMCID: PMC10198939, DOI: 10.1016/j.bone.2023.116763.
• 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)Thompson M, Li X, Spencer-Manzon M, Andrade D, Murakami Y, Kinoshita T, Carpenter T. 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). Genes 2023, 14: 359. PMID: 36833286, PMCID: PMC9957281, DOI: 10.3390/genes14020359.
• OR13-1 Long-Term Burosumab Therapy Provides Sustained Benefit in Patients with Tumor-Induced Osteomalacia: End of Study Findings From the Pivotal Phase 2 StudyCarpenter T, Cimms T, Hetzer J, Insogna K, Kumar R, Merritt II J, Miller P, Peacock M, Rauch F, Stanciu I, Weber T, Jan De Beur S. OR13-1 Long-Term Burosumab Therapy Provides Sustained Benefit in Patients with Tumor-Induced Osteomalacia: End of Study Findings From the Pivotal Phase 2 Study. Journal Of The Endocrine Society 2022, 6: a191-a191. PMCID: PMC9624705, DOI: 10.1210/jendso/bvac150.394.
• OR13-2 Characterizing the Impact of Burosumab on Bone Health in Children with X-Linked Hypophosphatemia: Results from Year 1 of the Disease Monitoring ProgramCarpenter T, Cassinelli H, Glorieux F, Hetzer J, Merritt II J, Moreira C, Portale A, Ward L, Woo C, Imel E. OR13-2 Characterizing the Impact of Burosumab on Bone Health in Children with X-Linked Hypophosphatemia: Results from Year 1 of the Disease Monitoring Program. Journal Of The Endocrine Society 2022, 6: a191-a192. PMCID: PMC9624613, DOI: 10.1210/jendso/bvac150.395.
• The efficacy and safety of burosumab in two patients with cutaneous skeletal hypophosphatemia syndromeSugarman J, Maruri A, Hamilton D, Tabatabai L, Luca D, Cimms T, Krolczyk S, Roberts M, Carpenter T. The efficacy and safety of burosumab in two patients with cutaneous skeletal hypophosphatemia syndrome. Bone 2022, 166: 116598. PMID: 36341949, DOI: 10.1016/j.bone.2022.116598.
• Response of enthesopathy in ENPP1 deficiency to enzyme replacement therapy in murine models and enthesopathy comorbidities and quality of life in ENPP1‐deficient adultsAnsh A, Nester C, O'Brien C, Stabach P, Murtada S, Lester E, Khursigara G, Molloy L, Carpenter T, Ferreira C, Braddock D. Response of enthesopathy in ENPP1 deficiency to enzyme replacement therapy in murine models and enthesopathy comorbidities and quality of life in ENPP1‐deficient adults. The FASEB Journal 2022, 36 DOI: 10.1096/fasebj.2022.36.s1.r5311.
• Systematic characterization of enzyme activity on ENPP1 deficiency disease phenotypeAnsh A, Stabach P, Carpenter T, Ferreira C, Braddock D. Systematic characterization of enzyme activity on ENPP1 deficiency disease phenotype. The FASEB Journal 2022, 36 DOI: 10.1096/fasebj.2022.36.s1.r5223.
• Cover, Volume 43, Issue 2Sarafrazi S, Daugherty S, Miller N, Boada P, Carpenter T, Chunn L, Dill K, Econs M, Eisenbeis S, Imel E, Johnson B, Kiel M, Krolczyk S, Ramesan P, Truty R, Sabbagh Y. Cover, Volume 43, Issue 2. Human Mutation 2022, 43: i-i. DOI: 10.1002/humu.24334.
• Growth curves for children with X-linked hypophosphatemiaMao M, Carpenter T, Whyte M, Skrinar A, Chen C, Martin J, Rogol A. Growth curves for children with X-linked hypophosphatemia. 2021 DOI: 10.1530/ey.18.5.5.
• Hypercalcaemic and Hypocalcaemic Syndromes in ChildrenArdeshirpour L, Carpenter T, Robinson C. Hypercalcaemic and Hypocalcaemic Syndromes in Children. 2021, 707-726. DOI: 10.1093/med/9780198870197.003.0087.
• Serum Levels of Lipocalin Are Lower in Adolescents With X-Linked HypophosphatemiaSimpson C, Santoro A, Carpenter T, Insogna K. Serum Levels of Lipocalin Are Lower in Adolescents With X-Linked Hypophosphatemia. Journal Of The Endocrine Society 2021, 5: a27-a27. PMCID: PMC8089365, DOI: 10.1210/jendso/bvab048.052.
• Burosumab Provides Sustained Improvement in Phosphorus Homeostasis and Heals Rickets in Children Aged 1 to 4 Years With X-Linked Hypophosphatemia (XLH)Gottesman G, Imel E, Carpenter T, Chen A, Skrinar A, Roberts M, Whyte M. Burosumab Provides Sustained Improvement in Phosphorus Homeostasis and Heals Rickets in Children Aged 1 to 4 Years With X-Linked Hypophosphatemia (XLH). Journal Of The Endocrine Society 2021, 5: a251-a251. DOI: 10.1210/jendso/bvab048.511.
• eP202 A comprehensive locus specific database of PHEX gene variants associated with X-linked hypophosphatemia vastly increases the number of known variantsMiller N, Daugherty S, Sarafrazi S, Boada P, Carpenter T, Chunn L, Econs M, Eisenbeis S, Imel E, Johnson B, Kiel M, Krolczyk S, Ramesan P, Truty R, Sabbagh Y. eP202 A comprehensive locus specific database of PHEX gene variants associated with X-linked hypophosphatemia vastly increases the number of known variants. Molecular Genetics And Metabolism 2021, 132: s133. DOI: 10.1016/s1096-7192(21)00287-0.
• Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotypeChoksi I, Cox A, Robinson C, Bale A, Carpenter T. Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype. Osteoporosis International 2021, 32: 1239-1244. PMID: 33624138, DOI: 10.1007/s00198-021-05838-1.
• 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 healthHM B, K S, WL R, J R, K N, C R, TO C, EJ C, NS K. 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. 2020 DOI: 10.1530/ey.17.9.16.
• Enpp1 enzyme replacement restores bone mass in murine model of Enpp1 associated osteoporosisBraddock D, Kavanagh D, Oheim R, Zimmerman K, Kroge S, Stabach P, Tommasini S, Levine M, Carpenter T, Horowitz M. Enpp1 enzyme replacement restores bone mass in murine model of Enpp1 associated osteoporosis. Bone Reports 2020, 13: 100623. DOI: 10.1016/j.bonr.2020.100623.
• ENPP1 regulates bone mass via an unidentified catalytically independent mechanismBraddock D, Zimmerman K, Oheim R, Kroge S, Stabach P, Kavanagh D, Tommasini S, Carpenter T. ENPP1 regulates bone mass via an unidentified catalytically independent mechanism. Bone Reports 2020, 13: 100692. DOI: 10.1016/j.bonr.2020.100692.
• Long-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate SupplementationEswarakumar AS, S. N, 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.
• OR29-01 Long-Term Safety in Adults with X-Linked Hypophosphatemia (XLH) Treated with Burosumab, a Fully Human Monoclonal Antibody Against FGF23: Final Results of a Phase 3 TrialPerwad F, Portale A, Carpenter T, Briot K, Imel E, Kamenicky P, Weber T, Pitukcheewanont P, Cheong H, De Beur S, Imanishi Y, Ito N, Lachmann R, Tanaka H, Zhang L, Skrinar A, Rees L, Insogna K. OR29-01 Long-Term Safety in Adults with X-Linked Hypophosphatemia (XLH) Treated with Burosumab, a Fully Human Monoclonal Antibody Against FGF23: Final Results of a Phase 3 Trial. Journal Of The Endocrine Society 2020, 4: or29-01. PMCID: PMC7209551, DOI: 10.1210/jendso/bvaa046.147.
• SAT-065 A Novel De Novo GATA3 Gene Mutation in an Adolescent with HDR SyndromeCruz-Aviles L, Bale A, Carpenter T. SAT-065 A Novel De Novo GATA3 Gene Mutation in an Adolescent with HDR Syndrome. Journal Of The Endocrine Society 2020, 4: sat-065. PMCID: PMC7208832, DOI: 10.1210/jendso/bvaa046.1845.
• SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis ImperfectaChoksi I, Carpenter T, Robinson C. SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta. Journal Of The Endocrine Society 2020, 4: sun-lb19. PMCID: PMC7209160, DOI: 10.1210/jendso/bvaa046.2020.
• OR29-06 Burosumab Improves Biochemical, Skeletal, and Clinical Features of Tumor-Induced Osteomalacia SyndromeCarpenter T, Miller P, Weber T, Peacock M, Insogna K, Kumar R, Luca D, Cimms T, Roberts M, de Beur S. OR29-06 Burosumab Improves Biochemical, Skeletal, and Clinical Features of Tumor-Induced Osteomalacia Syndrome. Journal Of The Endocrine Society 2020, 4: or29-06. PMCID: PMC7208350, DOI: 10.1210/jendso/bvaa046.403.
• X-linked Hypophosphatemia (XLH): Burosumab Significantly Improved Rickets and Standing Height Z-Score Compared with Conventional Therapy in Children with XLHHart M, Olear E, Chen A, Couto I, Imel E, Carpenter T, Dahir K, Black M. X-linked Hypophosphatemia (XLH): Burosumab Significantly Improved Rickets and Standing Height Z-Score Compared with Conventional Therapy in Children with XLH. Journal Of Pediatric Nursing 2020, 52: 111. DOI: 10.1016/j.pedn.2020.02.025.
• Effects of Iron Isomaltoside vs Ferric Carboxymaltose on Hypophosphatemia in Iron-Deficiency AnemiaWolf 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. JAMA 2020, 323: 432-443. PMID: 32016310, PMCID: PMC7042864, DOI: 10.1001/jama.2019.22450.
• Chapter 20 Phosphorus homeostasis and related disordersCarpenter T, Bergwitz C, Insogna K. Chapter 20 Phosphorus homeostasis and related disorders. 2020, 469-507. DOI: 10.1016/b978-0-12-814841-9.00020-8.
• Relationship of Total and Free 25-Hydroxyvitamin D to Biomarkers and Metabolic Indices in Healthy Children.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 & Metabolism 2019, 105: e1631-e1640. PMID: 31774125, PMCID: PMC7174047, DOI: 10.1210/clinem/dgz230.
• 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 healthBloomhardt HM, Sint K, Ross WL, Rotatori J, Ness K, Robinson C, Carpenter TO, Chow EJ, Kadan‐Lottick N. 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 2019, 126: 202-210. PMID: 31536650, DOI: 10.1002/cncr.32512.
• Missense mutations in ENPP1 result in osteoporosis in patients and is recapitulated in the ENPP1 loss of function murine modelBraddock D, Oheim R, Zimmerman K, Kavanagh D, Horowitz M, Carpenter T. Missense mutations in ENPP1 result in osteoporosis in patients and is recapitulated in the ENPP1 loss of function murine model. Bone Abstracts 2019 DOI: 10.1530/boneabs.7.p64.
• Sustained efficacy and safety of burosumab, a fully human anti-FGF23 monoclonal antibody, in children and early adolescents with X-linked hypophosphatemiaHogler W, Carpenter T, Imel E, Portale A, Boot A, Linglart A, Padidela R, Hoff W, Mao M, Skrinar A, Martin J, Whyte M. Sustained efficacy and safety of burosumab, a fully human anti-FGF23 monoclonal antibody, in children and early adolescents with X-linked hypophosphatemia. Bone Abstracts 2019 DOI: 10.1530/boneabs.7.oc15.
• Growth curves for children with X-linked hypophosphatemiaMao M, Carpenter T, Whyte M, Skrinar A, Chen C, Martin J, Rogol A. Growth curves for children with X-linked hypophosphatemia. Bone Abstracts 2019 DOI: 10.1530/boneabs.7.oc17.
• High dose vitamin D supplementation does not rescue bone loss following Roux-en-Y gastric bypass in female ratsNiu 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.
• 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 PeriodPortale 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.
• Description of 5 Novel SLC34A3/NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With HypercalciuriaChen 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.
• 011–X-Linked Hypophosphatemia (XLH): New Knowledge for Nurses Regarding Genetics, Pathophysiology and Clinical PresentationCouto I, Hart M, Olear E, Imel E, Carpenter T. 011–X-Linked Hypophosphatemia (XLH): New Knowledge for Nurses Regarding Genetics, Pathophysiology and Clinical Presentation. Journal Of Pediatric Nursing 2019, 46: 131. DOI: 10.1016/j.pedn.2019.02.018.
• OR13-1 Burosumab Improves the Biochemical, Skeletal, and Clinical Symptoms of Tumor-Induced Osteomalacia SyndromeJan De Beur S, Miller P, Weber T, Peacock M, Insogna K, Kumar R, Luca D, Theodore-Oklota C, Lampl K, San Martin J, Carpenter T. OR13-1 Burosumab Improves the Biochemical, Skeletal, and Clinical Symptoms of Tumor-Induced Osteomalacia Syndrome. Journal Of The Endocrine Society 2019, 3: or13-1. PMCID: PMC6554835, DOI: 10.1210/js.2019-or13-1.
• OR13-3 Effects of Iron Isomaltoside versus Ferric Carboxymaltose on Hormonal Control of Phosphate Homeostasis: The PHOSPHARE-IDA04/05 Randomized Controlled TrialsWolf M, Rubin J, Achebe M, Econs M, Peacock M, Imel E, Thomsen L, Carpenter T, Weber T, Zoller H. OR13-3 Effects of Iron Isomaltoside versus Ferric Carboxymaltose on Hormonal Control of Phosphate Homeostasis: The PHOSPHARE-IDA04/05 Randomized Controlled Trials. Journal Of The Endocrine Society 2019, 3: or13-3. PMCID: PMC6554827, DOI: 10.1210/js.2019-or13-3.
• Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity ScoreThacher 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.
• Efficacy and safety of burosumab in children aged 1–4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trialWhyte 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.
• Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutationAng K, 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.
• Burosumab Therapy in Children with X-Linked HypophosphatemiaTO C, MP W, EA I, AM B, W H, A L, R P, W V, M M, CY C, A S, E K, J S, AA P. Burosumab Therapy in Children with X-Linked Hypophosphatemia. 2018 DOI: 10.1530/ey.15.5.1.
• 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 AnalysisInsogna KL, Briot K, Imel EA, Kamenický P, Ruppe MD, Portale AA, Weber T, Pitukcheewanont P, Cheong HI, de Beur S, Imanishi Y, Ito N, Lachmann RH, Tanaka H, Perwad F, Zhang L, Chen C, Theodore‐Oklota C, Mealiffe M, San Martin J, Carpenter TO, Investigators O. 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 2018, 33: 1383-1393. PMID: 29947083, DOI: 10.1002/jbmr.3475.
• Burosumab Therapy in Children with X-Linked HypophosphatemiaCarpenter 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. New England Journal Of Medicine 2018, 378: 1987-1998. PMID: 29791829, DOI: 10.1056/nejmoa1714641.
• A Phase 3 randomized, double-blind, placebo-controlled study investigating the efficacy and safety of Burosumab, an anti-FGF23 antibody, in adult X-Linked Hypophosphatemia (XLH)Kamenicky P, Lachmann R, Carpenter T, Cohen-Solal M, Eastell R, Brandi M, Crowley R, Ralston S, Javaid M, Keen R, Briot K, Il C, Imanishi Y, Ito N, Tanaka H, Zhang L, Theodore-Oklota C, Mealiffe M, Martin J, Insogna K. A Phase 3 randomized, double-blind, placebo-controlled study investigating the efficacy and safety of Burosumab, an anti-FGF23 antibody, in adult X-Linked Hypophosphatemia (XLH). Endocrine Abstracts 2018 DOI: 10.1530/endoabs.56.oc3.1.
• ENPP1 Enzyme Replacement Prevents the Osteomalacia and Paradoxical Mineralization in the Enpp1asj/asj mouse model of Autosomal Recessive Hypophosphatemic Rickets Type‐2.Braddock D, Kavanagh D, Li X, Carpenter T, Levine M, Horowitz M. ENPP1 Enzyme Replacement Prevents the Osteomalacia and Paradoxical Mineralization in the Enpp1asj/asj mouse model of Autosomal Recessive Hypophosphatemic Rickets Type‐2. The FASEB Journal 2018, 32: 816.13-816.13. DOI: 10.1096/fasebj.2018.32.1_supplement.816.13.
• Abstract #512 A Phase 3 Randomized; Placebo-Controlled Study Investigating Burosumab for Adult X-Linked Hypophosphatemia (XLH)De Beur S, Carpenter T, Briot K, Imel E, Kamenický P, Ruppe M, Portale A, Weber T, Pitukcheewanont P, Cheong H, Imanishi Y, Ito N, Lachmann R, Tanaka H, Zhang L, Theodore-Oklota C, Mealiffe M, San Martin J, Insogna K. Abstract #512 A Phase 3 Randomized; Placebo-Controlled Study Investigating Burosumab for Adult X-Linked Hypophosphatemia (XLH). Endocrine Practice 2018, 24: 112. DOI: 10.1016/s1530-891x(20)47189-7.
• Abstract #525 Burosumab for X-Linked Hypophosphatemia (XLH): Results from Two Pediatric Phase 2 TrialsPortale A, Imel E, Whyte M, Boot A, Högler W, Linglart A, Padidela R, Hoff W, Gottesman G, Mao M, Skrinar A, San Martin J, Carpenter T. Abstract #525 Burosumab for X-Linked Hypophosphatemia (XLH): Results from Two Pediatric Phase 2 Trials. Endocrine Practice 2018, 24: 119-120. DOI: 10.1016/s1530-891x(20)47202-7.
• Three-Month Randomized Clinical Trial of Nasal Calcitonin in Adults with X-linked HypophosphatemiaSullivan 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.
• Rickets: The Skeletal Disorders of Impaired Calcium or Phosphate AvailabilityImel E, Carpenter T. Rickets: The Skeletal Disorders of Impaired Calcium or Phosphate Availability. 2018, 497-524. DOI: 10.1007/978-3-319-73782-9_23.
• Chapter 83 The Hypocalcemic DisordersGafni R, Insogna K, Carpenter T. Chapter 83 The Hypocalcemic Disorders. 2018, 527-547. DOI: 10.1016/b978-0-12-809963-6.00083-3.
• Effect of krn23, a Fully Human anti-fgf23 Monoclonal Antibody, on Rickets in Children with X-linked Hypophosphatemia (xlh): 40-week Interim Results from a Randomized, Open-label Phase 2 StudyPortale A, Imel E, Boot A, Högler W, Linglart A, Padidela R, Hoff W, Whyte M, San Martin J, Carpenter T. Effect of krn23, a Fully Human anti-fgf23 Monoclonal Antibody, on Rickets in Children with X-linked Hypophosphatemia (xlh): 40-week Interim Results from a Randomized, Open-label Phase 2 Study. 2018, 264-264. DOI: 10.1542/peds.141.1_meetingabstract.264.
• Effect of krn23, a Fully Human anti-fgf23 Monoclonal Antibody, on Rickets in Children with X-linked Hypophosphatemia (xlh): 40-week Interim Results from a Randomized, Open-label Phase 2 StudyPortale A, Imel E, Boot A, Högler W, Linglart A, Padidela R, Hoff W, Whyte M, San Martin J, Carpenter T. Effect of krn23, a Fully Human anti-fgf23 Monoclonal Antibody, on Rickets in Children with X-linked Hypophosphatemia (xlh): 40-week Interim Results from a Randomized, Open-label Phase 2 Study. Pediatrics 2018, 141: 264-264. DOI: 10.1542/peds.141.1ma3.264.
• RicketsCarpenter 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.
• KRN23 effects on phosphate and vitamin D dysregulation in children <5 years old with X-Linked Hypophosphatemia (XLH)Imel E, Carpenter T, Gottesman G, Martin J, Mao M, Skrinar A, Whyte M. KRN23 effects on phosphate and vitamin D dysregulation in children <5 years old with X-Linked Hypophosphatemia (XLH). Bone Abstracts 2017 DOI: 10.1530/boneabs.6.oc24.
• A randomized, open-label Phase 2 study of KRN23, an investigational fully human Anti-FGF23 monoclonal antibody, in children with X-linked Hypophosphatemia (XLH)Hogler W, Portale A, Imel E, Boot A, Linglart A, Padidela R, van't H, Whyte M, Mao M, Skrinar A, Martin J, Carpenter T. A randomized, open-label Phase 2 study of KRN23, an investigational fully human Anti-FGF23 monoclonal antibody, in children with X-linked Hypophosphatemia (XLH). Bone Abstracts 2017 DOI: 10.1530/boneabs.6.oc26.
• Effects of KRN23, a fully human anti-FGF23 monoclonal antibody, on functional outcomes in children with X-linked hypophosphatemia (XLH): results from a randomized, open-label Phase 2 studyImel E, Carpenter T, Linglart A, Boot A, Hogler W, Padidela R, van't H, Portale A, Mao M, Skrinar A, San M, Whyte M. Effects of KRN23, a fully human anti-FGF23 monoclonal antibody, on functional outcomes in children with X-linked hypophosphatemia (XLH): results from a randomized, open-label Phase 2 study. Bone Abstracts 2017 DOI: 10.1530/boneabs.6.p063.
• Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and childrenBallesteros L, S. N, 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.
• CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutationsCarpenter 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.
• Single Dose Of Bisphosphonate To Treat Infantile HypercalcemiaPatel N, Carpenter T, Genel M. Single Dose Of Bisphosphonate To Treat Infantile Hypercalcemia. AACE Clinical Case Reports 2017, 3: e246-e250. DOI: 10.4158/ep161536.cr.
• Effect of KRN23, a fully human anti-FGF23 monoclonal antibody, on rickets in children with X-linked hypophosphatemia (XLH): 40-week interim results from a randomized, open-label phase 2 studyPadidela R, van't H, Hogler W, Portale A, Imel E, Boot A, Linglart A, Whyte M, Skrinar A, San M, Carpenter T. Effect of KRN23, a fully human anti-FGF23 monoclonal antibody, on rickets in children with X-linked hypophosphatemia (XLH): 40-week interim results from a randomized, open-label phase 2 study. Endocrine Abstracts 2016 DOI: 10.1530/endoabs.45.oc5.1.
• Effect of KRN23, a fully human anti-FGF23 monoclonal antibody, on rickets in children with X-linked hypophosphatemia (XLH): 40-week interim results from a randomized, open-label phase 2 studyLinglart A, Carpenter T, Imel E, Boot A, Högler W, Padidela R, Hoff W, Whyte M, Chen C, Skrinar A, Agarwal S, San Martin J, Portale A. Effect of KRN23, a fully human anti-FGF23 monoclonal antibody, on rickets in children with X-linked hypophosphatemia (XLH): 40-week interim results from a randomized, open-label phase 2 study. Annales D Endocrinologie 2016, 77: 440. DOI: 10.1016/j.ando.2016.07.547.
• Characterization of FN1–FGFR1 and novel FN1–FGF1 fusion genes in a large series of phosphaturic mesenchymal tumorsLee 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 2016, 29: 1335-1346. PMID: 27443518, DOI: 10.1038/modpathol.2016.137.
• Hypophosphatemia promotes lower rates of muscle ATP synthesisPesta 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. The FASEB Journal 2016, 30: 3378-3387. PMID: 27338702, PMCID: PMC5024687, DOI: 10.1096/fj.201600473r.
• Pigment epithelium‐derived factor restoration increases bone mass and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockadeBelinsky 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. The FASEB Journal 2016, 30: 2837-2848. PMID: 27127101, PMCID: PMC4970601, DOI: 10.1096/fj.201500027r.
• Effect of KRN23, a fully human anti-FGF23 monoclonal antibody, on rickets in children with X-linked hypophosphatemia (XLH): 40-week interim results from a randomized, open-label Phase 2 studyImel E, Carpenter T, Boot A, Hogler W, Linglart A, Padidela R, van't H, Whyte M, Agarwal S, Chen C, Skrinar A, Martin J, Portale A. Effect of KRN23, a fully human anti-FGF23 monoclonal antibody, on rickets in children with X-linked hypophosphatemia (XLH): 40-week interim results from a randomized, open-label Phase 2 study. Bone Abstracts 2016 DOI: 10.1530/boneabs.5.ht6.
• Characterization of additional vitamin D binding protein variantsFu 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: 54-59. PMID: 26924582, DOI: 10.1016/j.jsbmb.2016.02.022.
• An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a DiagnosisPeter P, Brownstein C, Yao G, Olear E, Simpson C, Agrawal P, Carpenter T, Insogna K. An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis. AACE Clinical Case Reports 2016, 2: ee278-ee283. DOI: 10.4158/ep15944.cr.
• Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease.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 & Metabolism 2015, 100: 3625-32. PMID: 26176801, PMCID: PMC4596038, DOI: 10.1210/jc.2015-2199.
• A Practical Clinical Approach to Paediatric Phosphate DisordersImel EA, Carpenter TO. A Practical Clinical Approach to Paediatric Phosphate Disorders. 2015, 28: 134-161. PMID: 26138840, DOI: 10.1159/000381036.
• Contemporary Medical and Surgical Management of X-linked Hypophosphatemic RicketsSharkey MS, Grunseich K, Carpenter TO. Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets. Journal Of The American Academy Of Orthopaedic Surgeons 2015, 23: 433-442. PMID: 26040953, DOI: 10.5435/jaaos-d-14-00082.
• Prolonged Correction of Serum Phosphorus in Adults With X-Linked Hypophosphatemia Using Monthly Doses of KRN23Imel 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 & Metabolism 2015, 100: 2565-2573. PMID: 25919461, PMCID: PMC4495171, DOI: 10.1210/jc.2015-1551.
• Association between serum 25‐hydroxyvitamin D level and pulmonary exacerbations in cystic fibrosisVanstone MB, Egan ME, Zhang JH, Carpenter TO. Association between serum 25‐hydroxyvitamin D level and pulmonary exacerbations in cystic fibrosis. Pediatric Pulmonology 2015, 50: 441-446. PMID: 25657016, DOI: 10.1002/ppul.23161.
• A Clinician's Guide to X‐Linked HypophosphatemiaCarpenter T, Imel E, Holm I, de Beur S, Insogna K. A Clinician's Guide to X‐Linked Hypophosphatemia. Journal Of Bone And Mineral Research 2015, 30: 394-394. DOI: 10.1002/jbmr.2440.
• Screening and characterization of vitamin D binding protein variantsFu L, Wong B, Borges C, Williams R, Carpenter T, Cole D. Screening and characterization of vitamin D binding protein variants. Clinical Biochemistry 2014, 47: 1149-1150. DOI: 10.1016/j.clinbiochem.2014.06.048.
• Effect of Paricalcitol on Circulating Parathyroid Hormone in X-Linked Hypophosphatemia: A Randomized, Double-Blind, Placebo-Controlled StudyCarpenter 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 & Metabolism 2014, 99: 3103-3111. PMID: 25029424, PMCID: PMC4154090, DOI: 10.1210/jc.2014-2017.
• A randomized, double-blind, placebo-controlled, ascending, single-dose study of a human monoclonal anti-FGF23 antibody (KRN23) in X-linked hypophosphatemiaCarpenter T, Imel E, Ruppe M, Weber T, Klausner M, Wooddell M, Kawakami T, Ito T, Zhang X, Humphrey J, Insogna K, Peacock M. A randomized, double-blind, placebo-controlled, ascending, single-dose study of a human monoclonal anti-FGF23 antibody (KRN23) in X-linked hypophosphatemia. Bone Abstracts 2014 DOI: 10.1530/boneabs.3.pp90.
• Pharmacokinetics and pharmacodynamics of a human monoclonal anti-FGF23 antibody (KRN23) after ascending single-dose administration in patients with X-linked hypophosphatemiaZhang X, Carpenter T, Imel E, Ruppe M, Weber T, Klausner M, Kawakami T, Ito T, Humphrey J, Insogna K, Peacock M. Pharmacokinetics and pharmacodynamics of a human monoclonal anti-FGF23 antibody (KRN23) after ascending single-dose administration in patients with X-linked hypophosphatemia. Bone Abstracts 2014 DOI: 10.1530/boneabs.3.pp91.
• Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and NephrocalcinosisDasgupta 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 2014, 25: 2366-2375. PMID: 24700880, PMCID: PMC4178443, DOI: 10.1681/asn.2013101085.
• Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemiaCarpenter 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. Journal Of Clinical Investigation 2014, 124: 1587-1597. PMID: 24569459, PMCID: PMC3973088, DOI: 10.1172/jci72829.
• Gastric bypass in obese rats causes bone loss, vitamin D deficiency, metabolic acidosis, and elevated peptide YYCanales 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 2014, 10: 878-884. PMID: 24969093, PMCID: PMC4113565, DOI: 10.1016/j.soard.2014.01.021.
• Determination of mesenchymal stem cell fate by pigment epithelium‐derived factor (PEDF) results in increased adiposity and reduced bone mineral contentGattu 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. The FASEB Journal 2013, 27: 4384-4394. PMID: 23887690, PMCID: PMC3804749, DOI: 10.1096/fj.13-232900.
• Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcificationRafaelsen SH, Ræder 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 2013, 28: 1378-1385. PMID: 23325605, DOI: 10.1002/jbmr.1850.
• Rickets: The Skeletal Disorders of Impaired Calcium or Phosphate AvailabilityImel E, Carpenter T. Rickets: The Skeletal Disorders of Impaired Calcium or Phosphate Availability. 2013, 357-378. DOI: 10.1007/978-1-60761-395-4_21.
• Heart Failure in Hypophosphatemic Rickets: Complications from High-Dose Phosphate TherapySun GE, Suer O, Carpenter TO, Tan CD, Li-Ng M. Heart Failure in Hypophosphatemic Rickets: Complications from High-Dose Phosphate Therapy. Endocrine Practice 2013, 19: e8-e11. PMID: 23186962, DOI: 10.4158/ep12184.cr.
• Vitamin D binding protein is a key determinant of 25‐hydroxyvitamin D levels in infants and toddlersCarpenter TO, Zhang JH, Parra E, Ellis BK, Simpson C, Lee WM, Balko J, Fu L, Wong B, Cole D. Vitamin D binding protein is a key determinant of 25‐hydroxyvitamin D levels in infants and toddlers. Journal Of Bone And Mineral Research 2012, 28: 213-221. PMID: 22887780, PMCID: PMC3511814, DOI: 10.1002/jbmr.1735.
• Hypercalcemia in Children Receiving Pharmacologic Doses of Vitamin DVanstone MB, Oberfield SE, Shader L, Ardeshirpour L, Carpenter TO. Hypercalcemia in Children Receiving Pharmacologic Doses of Vitamin D. Pediatrics 2012, 129: e1060-e1063. PMID: 22412034, PMCID: PMC8194455, DOI: 10.1542/peds.2011-1663.
• Take Another CYP: Confirming a Novel Mechanism for “Idiopathic” HypercalcemiaCarpenter TO. Take Another CYP: Confirming a Novel Mechanism for “Idiopathic” Hypercalcemia. The Journal Of Clinical Endocrinology & Metabolism 2012, 97: 768-771. PMID: 22392954, PMCID: PMC3319214, DOI: 10.1210/jc.2012-1110.
• Effects of ethnicity and vitamin D supplementation on vitamin D status and changes in bone mineral content in infantsAbrams 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.
• Chapter 26 Familial Hypophosphatemia and Related DisordersHolm I, Econs M, Carpenter T. Chapter 26 Familial Hypophosphatemia and Related Disorders. 2012, 699-726. DOI: 10.1016/b978-0-12-382040-2.10026-7.
• Demographic, dietary, and biochemical determinants of vitamin D status in inner-city childrenCarpenter TO, Herreros F, Zhang JH, Ellis BK, Simpson C, Torrealba-Fox E, Kim GJ, Savoye M, Held NA, Cole D. Demographic, dietary, and biochemical determinants of vitamin D status in inner-city children. American Journal Of Clinical Nutrition 2011, 95: 137-146. PMID: 22170368, PMCID: PMC3238457, DOI: 10.3945/ajcn.111.018721.
• Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.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 & Metabolism 2011, 97: e268-74. PMID: 22112808, PMCID: PMC3275367, DOI: 10.1210/jc.2011-1972.
• Hypercalcaemic and hypocalcaemic syndromes in childrenArdeshirpour L, Carpenter T. Hypercalcaemic and hypocalcaemic syndromes in children. 2011, 687-700. DOI: 10.1093/med/9780199235292.003.0444.
• A clinician's guide to X‐linked hypophosphatemiaCarpenter TO, Imel EA, Holm IA, de Beur S, Insogna KL. A clinician's guide to X‐linked hypophosphatemia. Journal Of Bone And Mineral Research 2011, 26: 1381-1388. PMID: 21538511, PMCID: PMC3157040, DOI: 10.1002/jbmr.340.
• Effect Of Vitamin D Binding Protein (DBP) Genotype On The Development Of Asthma In Young ChildrenNavas-Nazario A, Fangyong L, Northrup V, Weiss P, Cole D, Carpenter T, Bazzy-Asaad A. Effect Of Vitamin D Binding Protein (DBP) Genotype On The Development Of Asthma In Young Children. 2011, a1358-a1358. DOI: 10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a1358.
• Chapter 59 The Hypocalcemic Disorders Differential Diagnosis and Therapeutic Use of Vitamin DCarpenter T, Insogna K. Chapter 59 The Hypocalcemic Disorders Differential Diagnosis and Therapeutic Use of Vitamin D. 2011, 1091-1106. DOI: 10.1016/b978-0-12-381978-9.10059-9.
• Rapid correction of bone mass after parathyroidectomy in an adolescent with primary hyperparathyroidism.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 & Metabolism 2010, 96: e347-50. PMID: 21106715, DOI: 10.1210/jc.2010-1723.
• Differences in 25-Hydroxyvitamin D Levels at Birth in Hispanic and Caucasian Infants Are Not Related to Neonatal Bone Mineral StatusHawthorne K, Hicks P, Rogers S, Carpenter T, Abrams S. Differences in 25-Hydroxyvitamin D Levels at Birth in Hispanic and Caucasian Infants Are Not Related to Neonatal Bone Mineral Status. Journal Of The Academy Of Nutrition And Dietetics 2010, 110: a35. DOI: 10.1016/j.jada.2010.06.131.
• Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: circadian variance, effects of treatment, and relationship to parathyroid status.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 & Metabolism 2010, 95: e352-7. PMID: 20685863, PMCID: PMC2968736, DOI: 10.1210/jc.2010-0589.
• National Institutes of Health Consensus Development Conference: lactose intolerance and health.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.
• Variations in cord 25‐hydroxyvitamin D levels in Hispanic and Caucasian infants are not related to neonatal bone mineral statusHicks P, Hawthorne K, Rogers S, Carpenter T, Abrams S. Variations in cord 25‐hydroxyvitamin D levels in Hispanic and Caucasian infants are not related to neonatal bone mineral status. The FASEB Journal 2010, 24: 325.4-325.4. DOI: 10.1096/fasebj.24.1_supplement.325.4.
• NIH consensus development conference statement: Lactose intolerance and health.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.
• Treatment of X-Linked Hypophosphatemia with Calcitriol and Phosphate Increases Circulating Fibroblast Growth Factor 23 ConcentrationsImel 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 & Metabolism 2010, 95: 1846-1850. PMID: 20157195, PMCID: PMC2853995, DOI: 10.1210/jc.2009-1671.
• Increased Bone Volume and Correction of HYP Mouse Hypophosphatemia in the Klotho/HYP MouseBrownstein 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 2009, 151: 492-501. PMID: 19952276, PMCID: PMC2817612, DOI: 10.1210/en.2009-0564.
• Nuclear Isoforms of Fibroblast Growth Factor 2 Are Novel Inducers of Hypophosphatemia via Modulation of FGF23 and KLOTHO*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*. Journal Of Biological Chemistry 2009, 285: 2834-2846. PMID: 19933269, PMCID: PMC2807337, DOI: 10.1074/jbc.m109.030577.
• Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp MiceLiang 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: 235-246. PMID: 19609735, PMCID: PMC2988401, DOI: 10.1007/s00223-009-9270-6.
• 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-IIcJaureguiberry 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-f379. PMID: 18480181, PMCID: PMC2519180, DOI: 10.1152/ajprenal.00090.2008.
• 25: Functional Analysis of Human Mutations in NAPI-IIC Reveals Important Residues for Surface Expression and Sodium-Phosphate Co-TransportBergwitz C, Jaureguiberry G, Carpenter T, Forman S, Jüppner H. 25: Functional Analysis of Human Mutations in NAPI-IIC Reveals Important Residues for Surface Expression and Sodium-Phosphate Co-Transport. American Journal Of Kidney Diseases 2008, 51: b34. DOI: 10.1053/j.ajkd.2008.02.030.
• A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidismBrownstein 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 α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proceedings Of The National Academy Of Sciences Of The United States Of America 2008, 105: 3455-3460. PMID: 18308935, PMCID: PMC2265125, DOI: 10.1073/pnas.0712361105.
• Dual Energy X-ray Absorptiometry Interpretation and Reporting in Children and Adolescents: The 2007 ISCD Pediatric Official PositionsGordon CM, Bachrach LK, Carpenter TO, Crabtree N, 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 2008, 11: 43-58. PMID: 18442752, DOI: 10.1016/j.jocd.2007.12.005.
• Evaluation of bone and mineral disorders.Ardeshirpour L, Cole DE, Carpenter TO. Evaluation of bone and mineral disorders. Pediatric Endocrinology Reviews : PER 2007, 5 Suppl 1: 584-98. PMID: 18167468.
• A randomized controlled study of effects of dietary magnesium oxide supplementation on bone mineral content in healthy girls.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 & Metabolism 2006, 91: 4866-72. PMID: 17018656, PMCID: PMC2995550, DOI: 10.1210/jc.2006-1391.
• Surveillance for Early Detection of Aggressive Parathyroid Disease: Carcinoma and Atypical Adenoma in Familial Isolated Hyperparathyroidism Associated With a Germline HRPT2 MutationKelly 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 2006, 21: 1666-1671. PMID: 16995822, DOI: 10.1359/jbmr.060702.
• SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate HomeostasisBergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabédian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Jüppner 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 2005, 78: 179-192. PMID: 16358214, PMCID: PMC1380228, DOI: 10.1086/499409.
• Relationships among vitamin D levels, parathyroid hormone, and calcium absorption in young adolescents.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 & Metabolism 2005, 90: 5576-81. PMID: 16076940, PMCID: PMC1283091, DOI: 10.1210/jc.2005-1021.
• Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytesSabbagh 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: 9637-9642. PMID: 15976027, PMCID: PMC1172249, DOI: 10.1073/pnas.0502249102.
• CHAPTER 64 The Hypocalcemic Disorders: Differential Diagnosis and Therapeutic Use of Vitamin DCARPENTER T, INSOGNA K. CHAPTER 64 The Hypocalcemic Disorders: Differential Diagnosis and Therapeutic Use of Vitamin D. 2005, 1049-1063. DOI: 10.1016/b978-012252687-9/50067-x.
• Multisystem study of 20 older adults with Williams syndromeCherniske 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, 131A: 255-264. PMID: 15534874, DOI: 10.1002/ajmg.a.30400.
• Nutritional rickets with normal circulating 25-hydroxyvitamin D: a call for reexamining the role of dietary calcium intake in North American infants.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 & Metabolism 2003, 88: 3539-45. PMID: 12915633, DOI: 10.1210/jc.2002-021935.
• Oncogenic osteomalacia--a complex dance of factors.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.
• Chapter 25 Familial Hypophosphatemia and Related DisordersHolm I, Econs M, Carpenter T. Chapter 25 Familial Hypophosphatemia and Related Disorders. 2003, 603-xvi. DOI: 10.1016/b978-012286551-0/50027-0.
• Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic RicketsHolm I, Nelson A, Robinson B, Mason R, Marsh D, Cowell C, Carpenter T. Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets. The Journal Of Clinical Endocrinology & Metabolism 2001, 86: 3889-3899. PMID: 11502829, DOI: 10.1210/jcem.86.8.7761.
• Ectopic cardiac calcification associated with hyperparathyroidism in a boy with hypophosphatemic ricketsMoltz K, Friedman A, Nehgme R, Kleinman C, Carpenter T. Ectopic cardiac calcification associated with hyperparathyroidism in a boy with hypophosphatemic rickets. Current Opinion In Pediatrics 2001, 13: 373-375. PMID: 11717565, DOI: 10.1097/00008480-200108000-00015.
• Phosphaturic Mesenchymal Tumor-Induced RicketsReyes-Múgica M, Arnsmeier S, Backeljauw P, Persing J, Ellis B, Carpenter T. Phosphaturic Mesenchymal Tumor-Induced Rickets. Pediatric And Developmental Pathology 2000, 3: 61-69. PMID: 10594133, DOI: 10.1007/s100249910008.
• Evaluation and Treatment of Heritable Forms of RicketsLevine B, Carpenter T. Evaluation and Treatment of Heritable Forms of Rickets. The Endocrinologist 1999, 9: 358-365. DOI: 10.1097/00019616-199909000-00006.
• Changes in Bone Turnover in Young Women Consuming Different Levels of Dietary Protein1Kerstetter J, Mitnick M, Gundberg C, Caseria D, Ellison A, Carpenter T, Insogna K. Changes in Bone Turnover in Young Women Consuming Different Levels of Dietary Protein1. The Journal Of Clinical Endocrinology & Metabolism 1999, 84: 1052-1055. DOI: 10.1210/jcem.84.3.5552.
• Diabetes insipidus as a hallmark neuroendocrine complication of neonatal meningitisCohen C, Rice E, Thomas D, Carpenter T. Diabetes insipidus as a hallmark neuroendocrine complication of neonatal meningitis. Current Opinion In Pediatrics 1998, 10: 449-452. PMID: 9757373, DOI: 10.1097/00008480-199808000-00021.
• Osteocalcin production in primary osteoblast cultures derived from normal and Hyp mice.Carpenter T, Moltz K, Ellis B, Andreoli M, McCarthy T, Centrella M, Bryan D, Gundberg C. Osteocalcin production in primary osteoblast cultures derived from normal and Hyp mice. Endocrinology 1998, 139: 35-43. PMID: 9421395, DOI: 10.1210/endo.139.1.5677.
• Pseudotumor Cerebri: A Presenting Manifestation of Addison's DiseaseCondulis N, Germain G, Charest N, Levy S, Carpenter T. Pseudotumor Cerebri: A Presenting Manifestation of Addison's Disease. Clinical Pediatrics 1997, 36: 711-713. PMID: 9415840, DOI: 10.1177/000992289703601208.
• PediatricsBackeljauw P, Carpenter T. Pediatrics. Southern Medical Journal 1997, 90: s105. DOI: 10.1097/00007611-199710001-00219.
• Cardiovascular Abnormalities in Patients with X-Linked HypophosphatemiaNehgme R, Fahey J, Smith C, Carpenter T. Cardiovascular Abnormalities in Patients with X-Linked Hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 1997, 82: 2450-2454. PMID: 9253316, DOI: 10.1210/jcem.82.8.4181.
• CARDIOVASCULAR (CV) ABNORMALITIES IN PATIENTS (PTS) WITH X-LINKED HYPOPHOSPHATEMIA (XLH). † 554Nehgme R, Fahey J, Smith C, Carpenter T. CARDIOVASCULAR (CV) ABNORMALITIES IN PATIENTS (PTS) WITH X-LINKED HYPOPHOSPHATEMIA (XLH). † 554. Pediatric Research 1996, 39: 95-95. DOI: 10.1203/00006450-199604001-00575.
• Media Calcium Attenuates Mitochondrial 1,25(OH)2D Production in Phosphorus or Vitamin D-Deprived RatsCarpenter T, Ellis B. Media Calcium Attenuates Mitochondrial 1,25(OH)2D Production in Phosphorus or Vitamin D-Deprived Rats. Pediatric Research 1995, 37: 726-730. PMID: 7544454, DOI: 10.1203/00006450-199506000-00009.
• Secretion of a Large Molecular‐Weight Form of Insulin‐Like Growth Factor by a Primary Renal TumorKorn E, van Hoff J, Buckley P, Daughaday W, Carpenter T. Secretion of a Large Molecular‐Weight Form of Insulin‐Like Growth Factor by a Primary Renal Tumor. Pediatric Blood & Cancer 1995, 24: 392-396. PMID: 7715546, DOI: 10.1002/mpo.2950240610.
• Safety of parenteral hydroxypropyl β‐cyclodextrinCarpenter T, Gerloczy A, Pitha J. Safety of parenteral hydroxypropyl β‐cyclodextrin. Journal Of Pharmaceutical Sciences 1995, 84: 222-225. PMID: 7738806, DOI: 10.1002/jps.2600840220.
• Hydroxypropylcyclodextrins in parenteral use. II: Effects on transport and disposition of lipids in rabbit and humansIrie T, Fukunaga K, Garwood M, Carpenter T, Pitha J, Pitha J. Hydroxypropylcyclodextrins in parenteral use. II: Effects on transport and disposition of lipids in rabbit and humans. Journal Of Pharmaceutical Sciences 1992, 81: 524-528. PMID: 1522488, DOI: 10.1002/jps.2600810610.
• Effects of phosphorus and 1,25(OH)2D3 on serum osteocalcin in the Hyp mouseGundberg C, Carpenter T. Effects of phosphorus and 1,25(OH)2D3 on serum osteocalcin in the Hyp mouse. Bone And Mineral 1992, 17: 132. DOI: 10.1016/0169-6009(92)91868-j.
• A prospective trial of phosphate and 1,25(OH)2D in symptomatic adults with X-linked hypohosphatemiaCarpenter T, Sullivan W, Glorieux F, Travers R, Insogna K. A prospective trial of phosphate and 1,25(OH)2D in symptomatic adults with X-linked hypohosphatemia. Bone And Mineral 1992, 17: 209. DOI: 10.1016/0169-6009(92)92170-u.
• Effect of growth hormone treatment on hyperinsulinemia associated with turner syndromeCaprio S, Boulware S, Press M, Sherwin R, Rubin K, Carpenter T, Plewe G, Tamborlane W. Effect of growth hormone treatment on hyperinsulinemia associated with turner syndrome. The Journal Of Pediatrics 1992, 120: 238-243. PMID: 1735819, DOI: 10.1016/s0022-3476(05)80434-2.
• Vitamin D metabolism in chronic childhood hypoparathyroidism: Evidence for a direct regulatory effect of calciumCarpenter T, Insogna K, Boulware S, Mitnick M. Vitamin D metabolism in chronic childhood hypoparathyroidism: Evidence for a direct regulatory effect of calcium. The Journal Of Pediatrics 1990, 116: 252-257. PMID: 2299496, DOI: 10.1016/s0022-3476(05)82883-5.
• Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria.Chen C, Carpenter T, Steg N, Baron R, Anast C. Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria. Pediatrics 1989, 84: 276-80. PMID: 2787497, DOI: 10.1542/peds.84.2.276.
• Mineral regulation of vitamin D metabolismCarpenter T. Mineral regulation of vitamin D metabolism. Bone And Mineral 1989, 5: 259-269. PMID: 2655775, DOI: 10.1016/0169-6009(89)90004-4.
• CIRCULATING OSTEOCALCIN IN MAGNESIUM DEFICIENCY: RESPONSE TO 1,25(OH)2DCARPENTER T, MITNICK M, JOHNSON P, GUNDBERG C. CIRCULATING OSTEOCALCIN IN MAGNESIUM DEFICIENCY: RESPONSE TO 1,25(OH)2D. 1988, 618-619. DOI: 10.1515/9783110846713.618.
• Severe hypervitaminosis A in siblings: Evidence of variable tolerance to retinol intakeCarpenter T, Pettifor J, Russell R, Pitha J, Mobarhan S, Ossip M, Wainer S, Anast C. Severe hypervitaminosis A in siblings: Evidence of variable tolerance to retinol intake. The Journal Of Pediatrics 1987, 111: 507-512. PMID: 3655980, DOI: 10.1016/s0022-3476(87)80109-9.
• BONE FRAGILITY, CRANIOSYNOSTOSIS, HYDROCEPHALUS AND OCULAR PROPTOSIS: FURTHER OBSERVATIONS ON A NEWLY RECOGNIZED TYPE OF OSTEOGENESIS IMPERFECTA (OI)Cole D, Carpenter T. BONE FRAGILITY, CRANIOSYNOSTOSIS, HYDROCEPHALUS AND OCULAR PROPTOSIS: FURTHER OBSERVATIONS ON A NEWLY RECOGNIZED TYPE OF OSTEOGENESIS IMPERFECTA (OI). Pediatric Research 1987, 21: 226-226. DOI: 10.1203/00006450-198704010-00360.
• Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: A newly recognized type of osteogenesis imperfectaCole E, Carpenter T. Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: A newly recognized type of osteogenesis imperfecta. The Journal Of Pediatrics 1987, 110: 76-80. PMID: 3794889, DOI: 10.1016/s0022-3476(87)80292-5.
• Hereditary xanthinuria presenting in infancy with nephrolithiasisCarpenter T, Lebowitz R, Nelson D, Bauer S. Hereditary xanthinuria presenting in infancy with nephrolithiasis. The Journal Of Pediatrics 1986, 109: 307-309. PMID: 3755469, DOI: 10.1016/s0022-3476(86)80391-2.
• Progressive tubulointerstitial renal disease in infancy with associated hepatic abnormalitiesHarris H, Carpenter T, Shanley P, Rosen S, Levey R, Harmon W. Progressive tubulointerstitial renal disease in infancy with associated hepatic abnormalities. The American Journal Of Medicine 1986, 81: 169-176. PMID: 3524222, DOI: 10.1016/0002-9343(86)90205-6.
• Serum osteocalcin concentrations in children with metabolic bone diseaseCole D, Carpenter T, Gundberg C. Serum osteocalcin concentrations in children with metabolic bone disease. The Journal Of Pediatrics 1985, 106: 770-776. PMID: 3873533, DOI: 10.1016/s0022-3476(85)80351-6.
• Lysinuric Protein Intolerance Presenting as Childhood Osteoporosis — Clinical and Skeletal Response to Citrulline TherapyCarpenter T, Levy H, Holtrop M, Shih V, Anast C. Lysinuric Protein Intolerance Presenting as Childhood Osteoporosis — Clinical and Skeletal Response to Citrulline Therapy. New England Journal Of Medicine 1985, 312: 290-294. PMID: 3917550, DOI: 10.1056/nejm198501313120506.
• Hypoparathyroidism in Wilson's DiseaseCarpenter T, Carnes D, Anast C. Hypoparathyroidism in Wilson's Disease. New England Journal Of Medicine 1983, 309: 873-877. PMID: 6888480, DOI: 10.1056/nejm198310133091501.