Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Stan, Krolczyk"'
Publikováno v:
Case Reports in Rheumatology, Vol 2024 (2024)
Objectives. Rare metabolic bone diseases can present with symptoms mimicking more common rheumatological conditions including spondyloarthritis, osteoarthritis, and fibromyalgia. Increasing awareness of these rare diseases within the rheumatology com
Externí odkaz:
https://doaj.org/article/3d65abb7cf024d38b6e4394fe4ff15e2
Autor:
Soodabeh Sarafrazi, Sean C. Daugherty, Nicole Miller, Patrick Boada, Thomas O. Carpenter, Lauren Chunn, Kariena Dill, Michael J. Econs, Scott Eisenbeis, Erik A. Imel, Britt Johnson, Mark J. Kiel, Stan Krolczyk, Prameela Ramesan, Rebecca Truty, Yves Sabbagh
Publikováno v:
Human Mutation. 43
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8db9d3a51f947940e42a9c45d05c9b94
https://doi.org/10.1002/humu.24334
https://doi.org/10.1002/humu.24334
Autor:
Jeffrey, Sugarman, Ann, Maruri, Dale J, Hamilton, Laila, Tabatabai, Diana, Luca, Tricia, Cimms, Stan, Krolczyk, Mary Scott, Roberts, Thomas O, Carpenter
Publikováno v:
Bone. 166:116598
Cutaneous skeletal hypophosphatemia syndrome (CSHS) is an ultra-rare mosaic disorder manifesting as skeletal dysplasia and FGF23-mediated hypophosphatemia, with some experiencing extra-osseous/extra-cutaneous manifestations, including both benign and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e77022b65caa04355b4954ea8cadfe41
https://doi.org/10.1016/j.bone.2022.116598
https://doi.org/10.1016/j.bone.2022.116598
Autor:
Stan Krolczyk, Soodabeh Sarafrazi, Lauren Chunn, Patrick Boada, Michael J. Econs, Britt Johnson, Erik A. Imel, Nicole Miller, Mark J. Kiel, Scott Eisenbeis, Sean Daugherty, Prameela Ramesan, Thomas O. Carpenter, Rebecca Truty, Yves Sabbagh, Kariena Dill
Publikováno v:
Human mutation. 43(2)
X-linked hypophosphatemia (XLH), the most common form of hereditary hypophosphatemia, is caused by disrupting variants in the PHEX gene, located on the X chromosome. XLH is inherited in an X-linked pattern with complete penetrance observed for both m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ff3565673b7909942cb8f31a8a74857
https://pubmed.ncbi.nlm.nih.gov/34806794
https://pubmed.ncbi.nlm.nih.gov/34806794
Autor:
Stan Krolczyk, Scott Eisenbeis, Soodabeh Sarafrazi, Eric T. Rush, Britt Johnson, Rebecca Truty, Kathryn Dahir, Prameela Ramesan, Nicole Miller, Swaroop Aradhya, Ana Morales, Daniel Beltran, Sara L. Bristow, Norma E. Guerra
Publikováno v:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 37(2)
X-linked hypophosphatemia (XLH), a dominant disorder caused by pathogenic variants in the PHEX gene, affects both sexes of all ages and results in elevated serum fibroblast growth factor 23 (FGF23) and below-normal serum phosphate. In XLH, rickets, o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74004d8f6ccab8c226fb7578c4a88acb
https://pubmed.ncbi.nlm.nih.gov/34633109
https://pubmed.ncbi.nlm.nih.gov/34633109
Autor:
Stan Krolczyk, Mary Scott Roberts, Janet Y. Lee, Roberto Civitelli, Thomas Weber, Cemre Robinson, Julia F. Charles, Kathryn Dahir, María Belén Zanchetta, Ruban Dhaliwal, Irinel Stanciu
Publikováno v:
Journal of the Endocrine Society
Journal of the Endocrine Society, vol 5, iss 9
Journal of the Endocrine Society, vol 5, iss 9
Purpose Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome of abnormal phosphate and vitamin D metabolism caused by typically small endocrine tumors that secrete fibroblast growth factor 23 (FGF23). TIO is characterized clinically by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e002730cf6e4c64c60f9555cd3cf943e
http://europepmc.org/articles/PMC8282217
http://europepmc.org/articles/PMC8282217
Publikováno v:
Journal of the Endocrine Society
X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive musculoskeletal disease that often causes pain and short stature, as well as decreased physical function, mobility, and quality of life. Hypophosphatemia in XLH is caused by loss of f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1088a87ef63da0ac3c9f72bce11f24ce
http://europepmc.org/articles/PMC7649833
http://europepmc.org/articles/PMC7649833
Autor:
Soodabeh Sarafrazi, Nicole Miller, Stan Krolczyk, Thomas O. Carpenter, Yves Sabbagh, Prameela Ramesan, Scott Eisenbeis, Rebecca Truty, Britt Johnson, Erik A. Imel, Lauren Chunn, Mark J. Kiel, Michael J. Econs, Sean Daugherty, Patrick Boada
Publikováno v:
Molecular Genetics and Metabolism. 132:S133
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::455b669c2e40d52c373cb1cc3fe07b02
https://doi.org/10.1016/s1096-7192(21)00287-0
https://doi.org/10.1016/s1096-7192(21)00287-0