| 011–X-Linked Hypophosphatemia (XLH): New Knowledge for Nurses Regarding Genetics, Pathophysiology and Clinical Presentation I Couto, M Hart, E Olear, EA Imel, TO Carpenter Journal of Pediatric Nursing 46, 131, 2019 | | 2019 |
| 24, 25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study TO Carpenter, M Keller, D Schwartz, M Mitnick, C Smith, A Ellison, ... The Journal of Clinical Endocrinology & Metabolism 81 (6), 2381-2388, 1996 | 54 | 1996 |
| 25-OHD response to vitamin D supplementation in children: effect of dose but not GC haplotype CA Simpson, JH Zhang, D Vanderschueren, L Fu, TC Pennestri, ... European journal of endocrinology 185 (2), 333-342, 2021 | 4 | 2021 |
| 25: Functional Analysis of Human Mutations in NAPI-IIC Reveals Important Residues for Surface Expression and Sodium-Phosphate Co-Transport C Bergwitz, G Jaureguiberry, TO Carpenter, S Forman, H Jüppner American Journal of Kidney Diseases 4 (51), B34, 2008 | | 2008 |
| A Clinician's Guide to X-Linked Hypophosphatemia (vol 26, pg 1381, 2011) TO Carpenter, EA Imel, IA Holm, SMJ de Beur, KL Insogna JOURNAL OF BONE AND MINERAL RESEARCH 30 (2), 394-394, 2015 | | 2015 |
| A clinician's guide to X‐linked hypophosphatemia TO Carpenter, EA Imel, IA Holm, SM Jan de Beur, KL Insogna Journal of Bone and Mineral Research 26 (7), 1381-1388, 2011 | 675 | 2011 |
| A Clinician's Guide to X‐Linked Hypophosphatemia TO Carpenter, EA Imel, IA Holm, SM Jan de Beur, KL Insogna Journal of Bone and Mineral Research 30 (2), 394-394, 2015 | 2 | 2015 |
| A comprehensive locus specific database of PHEX gene variants associated with X-linked hypophosphatemia vastly increases the number of known variants N Miller, S Daugherty, S Sarafrazi, P Boada, T Carpenter, L Chunn, ... Molecular Genetics and Metabolism 132, S133, 2021 | | 2021 |
| A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia M Kayser, P Jain, A Bale, TO Carpenter JCEM Case Reports 1 (5), luad082, 2023 | | 2023 |
| A first-in-human, randomized, double-blind, placebo-controlled, single-dose study of a human monoclonal anti-FGF23 antibody (KRN23) in X-linked hypophosphatemia T Carpenter, E Imel, M Ruppe, T Weber, M Klausner, M Wooddell, ... JOURNAL OF BONE AND MINERAL RESEARCH 28, 2013 | 2 | 2013 |
| A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population SL Anderson, C Jalas, A Fedick, KF Reid, TO Carpenter, D Chirnomas, ... Clinical genetics 88 (1), 74-79, 2015 | 11 | 2015 |
| A Homozygous Threonine to Methionine Substitution in FGF23 Gene Is Associated with Tumoral Calcinosis in a 12 Year-old Girl. NS Dunbar, C Nelson-Williams, RL Lifton, TO Carpenter JOURNAL OF BONE AND MINERAL RESEARCH 23, S283-S283, 2008 | | 2008 |
| A Novel Case of Human Osteopetrosis Associated with Glanzmann's Thrombasthenia Due to a Homozygous Pathogenic Mutation in ITGB3 JS Avigdor, GM Kupfer, A Bale, TO Carpenter JOURNAL OF BONE AND MINERAL RESEARCH 33, 421-421, 2018 | | 2018 |
| A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of … G Jaureguiberry, TO Carpenter, S Forman, H Jüppner, C Bergwitz American Journal of Physiology-Renal Physiology 295 (2), F371-F379, 2008 | 78 | 2008 |
| A novel missense mutation in SLC34A3 that causes HHRH identifies threonine 137 as an important determinant of sodium-phosphate co-transport in NaPi-IIc G Jaureguiberry, TO Carpenter, S Forman, H Jueppner, C Bergwitz Am J Physiol Renal Physiol 295, F371-9, 2008 | 6 | 2008 |
| A novel presentation of diffuse lung disease caused by congenital hypothyroidism A Shenoy, AE Esquibies, N Dunbar, MK Dishop, M Reyes-Mugica, ... The Journal of pediatrics 155 (4), 593-595, 2009 | 4 | 2009 |
| 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) P Kamenicky, R Lachmann, TO Carpenter, M Cohen-Solal, R Eastell, ... Endocrine Abstracts 56, 2018 | 1 | 2018 |
| A PHASE 3 RANDOMIZED, PLACEBO-CONTROLLED STUDY INVESTIGATING BUROSUMAB FOR ADULT X-LINKED HYPOPHOSPHATEMIA (XLH) SJ De Beur, T Carpenter, MD Karine Briot, E Imel, MD Peter Kamenický, ... Endocrine Practice 24, 112-112, 2018 | | 2018 |
| A practical clinical approach to paediatric phosphate disorders EA Imel, TO Carpenter Calcium and bone disorders in children and adolescents 28, 134-161, 2015 | 16 | 2015 |
| A prospective trial of phosphate and 1, 25 (OH) 2D in symptomatic adults with X-linked hypohosphatemia T Carpenter, W Sullivan, F Glorieux, R Travers, K Insogna Bone and Mineral 17, 209, 1992 | | 1992 |
