Zobrazeno 1 - 10
of 208
pro vyhledávání: '"Thomas O. Carpenter"'
Publikováno v:
Bone Reports, Vol 19, Iss , Pp 101707- (2023)
Craniometaphyseal dysplasia (CMD) is an infrequently occurring skeletal dysplasia often caused by a mutation in ANKH. The most common features are early and progressive hyperostosis of craniofacial bones, which may cause obstruction of cranial nerves
Externí odkaz:
https://doaj.org/article/3e1fa1bc50484e7585d3c49089421a78
Autor:
Kathleen Ang, Elizabeth Sanchez Rangel, Qianying Yuan, Dianqing Wu, Thomas O. Carpenter, Karl Insogna
Publikováno v:
Bone Reports, Vol 9, Iss , Pp 154-158 (2018)
Context: Most heritable causes of low bone mass in children occur due to mutations affecting type 1 collagen. We describe two related patients with low bone mass and fracture without mutations in the type 1 collagen genes. Case description: We descri
Externí odkaz:
https://doaj.org/article/b26e675c61ae4e1e8428e97ddf8eec47
Autor:
Kathleen Timme, Elizabeth Sanchez Rangel, Qianying Yuan, Dianqing Wu, Thomas O. Carpenter, Karl Insogna
Publikováno v:
Bone Reports, Vol 12, Iss , Pp 100252- (2020)
Externí odkaz:
https://doaj.org/article/a009b2d239884d458caf05d9cbc30438
Autor:
Mary D. Ruppe, Xiaoping Zhang, Erik A. Imel, Thomas J. Weber, Mark A. Klausner, Takahiro Ito, Maria Vergeire, Jeffrey S. Humphrey, Francis H. Glorieux, Anthony A. Portale, Karl Insogna, Munro Peacock, Thomas O. Carpenter
Publikováno v:
Bone Reports, Vol 5, Iss , Pp 158-162 (2016)
X-linked hypophosphatemia (XLH) is characterized by lower extremity deformities that lead to bone and/or joint pain that result from decreased renal tubular reabsorption leading to hypophosphatemia caused by elevated levels of fibroblast growth facto
Externí odkaz:
https://doaj.org/article/089ee6dd0b454d568f66892c9fe0c52e
Publikováno v:
AACE Clinical Case Reports, Vol 3, Iss 3, Pp e246-e250 (2017)
ABSTRACT: Objective: To describe a case of subcutaneous fat necrosis (SCFN) treated with a single dose of bisphosphonate.Methods: We present the clinical, laboratory, and radiologic findings in an infant with severe hypercalcemia secondary to SCFN an
Externí odkaz:
https://doaj.org/article/5f26fff85e1c4271a92a6f5c8736172b
Autor:
Patricia R. Peter, MD, Catherine A. Brownstein, PhD, Gang-Qing Yao, MD, Elizabeth A. Olear, MS, MA, Christine A. Simpson, MS, MT (ASCP), Pankaj B. Agrawal, MD, MMSC, Thomas O. Carpenter, MD, Karl L. Insogna, MD
Publikováno v:
AACE Clinical Case Reports, Vol 2, Iss 4, Pp ee278-ee283 (2016)
ABSTRACT: Objective: Rickets can be caused by a wide variety of underlying nutritional deficiencies or genetic defects. There is significant overlap in the clinical presentations of the various forms of rickets and the risk for misdiagnosis is great.
Externí odkaz:
https://doaj.org/article/8ea09908ee7b4aa186f63a6000ae5924
Autor:
Thomas J Weber, Erik A Imel, Thomas O Carpenter, Munro Peacock, Anthony A Portale, Joel Hetzer, J Lawrence Merritt, Karl Insogna
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 108:155-165
Context Burosumab was developed as a treatment option for patients with the rare, lifelong, chronically debilitating, genetic bone disease X-linked hypophosphatemia (XLH). Objective Collect additional information on the safety, immunogenicity, and cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6fce1a03c5d88f20e683eb7f2461794
https://doi.org/10.1210/clinem/dgac518
https://doi.org/10.1210/clinem/dgac518
Autor:
Kristin Zimmerman, Xiaochen Liu, Simon von Kroge, Paul Stabach, Ethan R. Lester, Emily Y. Chu, Shivani Srivastava, Martha J. Somerman, Steven M. Tommasini, Björn Busse, Thorsten Schinke, Thomas O. Carpenter, Ralf Oheim, Demetrios T. Braddock
Publikováno v:
Journal of Bone and Mineral Research. 37:1733-1749
Biallelic ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) deficiency induces vascular/soft tissue calcifications in generalized arterial calcification of infancy (GACI), and low bone mass with phosphate-wasting rickets in GACI survivors (a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::314e95b8fd71f70c02b69948a42477c8
https://doi.org/10.1002/jbmr.4640
https://doi.org/10.1002/jbmr.4640
Publikováno v:
New England Journal of Medicine. 385:1604-1613
A Girl with Swelling of the Jaw and Hypercalcemia A 14-year-old girl presented with progressive swelling of the jaw. Six weeks before this admission, a nonpainful lump in the left lower jaw develop...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6bf867f9695bc3c94bd1fb6d79ec3a49
https://doi.org/10.1056/nejmcpc2107351
https://doi.org/10.1056/nejmcpc2107351
Autor:
Julio Soto Barros, Sabrina I. Sanchez, Kristin Cabral, Alan H. Beggs, Pankaj B. Agrawal, Casie A. Genetti, Catherine A. Brownstein, Thomas O. Carpenter
Publikováno v:
Bone. 172:116763
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eeab4d788e99cbb5ac813e5b5860de67
https://doi.org/10.1016/j.bone.2023.116763
https://doi.org/10.1016/j.bone.2023.116763