Anticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives

Autor: Lothar Seefried, Martin Biosse Duplan, Karine Briot, Michael T. Collins, Rachel Evans, Pablo Florenzano, Neil Hawkins, Muhammad Kassim Javaid, Robin Lachmann, Leanne M. Ward

Publikováno v: Frontiers in Endocrinology, Vol 14 (2023)

X-linked hypophosphatemia (XLH) is a rare, progressive, genetic disease with multisystem impact that typically begins to manifest in early childhood. Two treatment options exist: oral phosphate in combination with active vitamin D (“conventional th

Externí odkaz: https://doaj.org/article/8857db7dec214c02a8bc6c7dc21c0c61

Tumor-induced osteomalacia

Autor: Pablo Florenzano, Rachel I. Gafni, Michael T. Collins

Publikováno v: Bone Reports, Vol 7, Iss C, Pp 90-97 (2017)

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome clinically characterized by bone pain, fractures and muscle weakness. It is caused by tumoral overproduction of fibroblast growth factor 23 (FGF23) that acts primarily at the proximal

Externí odkaz: https://doaj.org/article/1aae4de70b3046cf8b01ff41aee680cb

Caracterización clínica de pacientes chilenos con displasia fibrosa/síndrome de McCune-Albright

Autor: Catalina Jiménez, Paulina Schneider, Rene Baudrand, Hernán García, Alejandro Martínez, Carolina Mendoza, Francisca Grob, Cristián Seiltgens, Pablo Florenzano

Publikováno v: Revista médica de Chile. 150:1275-1282

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::90682f05afad5df9ea4fa25dcedf319d
https://doi.org/10.4067/s0034-98872022001001275

Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX)

Autor: Juan Guillermo Cárdenas Aguilera, Adriana Medina Orjuela, Adriana Isabel Meza, Juan Carlos Prieto, Ana María Zarante Bahamón, Jimena Adriana Cáceres Mosquera, Natalia Mejía Gaviria, Ana Katherina Serrano Gayubo, Richard Baquero Rodriguez, Kelly Chacón Acevedo, Gustavo Adolfo Guerrero Tinoco, Alejandro Uribe Rios, María Fernanda García Rueda, Verónica Abad Londoño, Sergio Alejandro Nossa Almanza, Gustavo Aroca Martínez, Alejandro Román González, Jorge Alberto Endo Cáceres, Juan Pablo Llano Linares, Pablo Florenzano Valdes, Manuel Diaz Curiel, María Helena Vaisbich, María Belen Zanchetta, Norma Elizabeth Guerra Hernández, Eduardo Enrique Stefano, Oscar Brunetto

Publikováno v: Research square
Vol XX, No X, (2023)

Background: X-linked hypophosphatemic rickets is a hereditary disease that generates alterations in bone mineral homeostasis. The morbidity of the condition has been variable in previous decades and even contradictory, probably due to the definition

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8359e9e4f99f8fa81c2ead9ad4a74607
https://doi.org/10.21203/rs.3.rs-2228921/v1

An Expert Perspective on Phosphate Dysregulation With a Focus on Chronic Hypophosphatemia

Autor: Fahad Aljuraibah, Justine Bacchetta, Maria Luisa Brandi, Pablo Florenzano, Muhammad K Javaid, Outimaija Mäkitie, Adalbert Raimann, Mariano Rodriguez, Heide Siggelkow, Dov Tiosano, Marc Vervloet, Carsten A Wagner

Publikováno v: Aljuraibah, F, Bacchetta, J, Brandi, M L, Florenzano, P, Javaid, M K, Mäkitie, O, Raimann, A, Rodriguez, M, Siggelkow, H, Tiosano, D, Vervloet, M & Wagner, C A 2022, ' An Expert Perspective on Phosphate Dysregulation With a Focus on Chronic Hypophosphatemia ', Journal of Bone and Mineral Research, vol. 37, no. 1, pp. 12-20 . https://doi.org/10.1002/jbmr.4486
Journal of Bone and Mineral Research, 37(1), 12-20. Wiley-Blackwell

Because of their rarity, diseases characterized by chronic hypophosphatemia can be underrecognized and suboptimally managed, resulting in poor clinical outcomes. Moreover, serum phosphate may not be measured routinely in primary care practice. Author

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16b952c94d6f8f0753d5cbb0a5f601f0
https://doi.org/10.1002/jbmr.4486