Results 71 to 80 of about 1,955 (223)

Consideration of quality of life in the health technology assessments of rare disease treatments [PDF]

, 2021
Objectives Challenges with patient-reported outcome (PRO) evidence and health state utility values (HSUVs) in rare diseases exist due to small, heterogeneous populations, lack of disease knowledge and early onset. To better incorporate quality of life (
Drummond, Michael, Facey, Karen, Meregaglia, Michela, Nicod, Elena, Upadhyaya, Sheela, Whittal, Amanda   +5 more
core   +1 more source

Causal Effects of Plasma Proteins in Polycystic Ovary Syndrome: A Proteome‐Wide Mendelian Randomization Study

Health Science Reports, Volume 8, Issue 9, September 2025.
ABSTRACT Background and Aims Polycystic ovary syndrome (PCOS) is a prevalent endocrine and metabolic disorder with complex pathogenesis and limited targeted therapeutic options. This study presents a proteomics‐informed approach to identify potential plasma protein targets for PCOS intervention using causal inference methods.
Tong Yu, Pengfei Zeng, Hang Zhou
wiley   +1 more source

Current Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience [PDF]

This report provides recommendations for X-linked hypophosphatemia (XLH) monitoring based on current monitoring practices of experts in the management of XLH in children (
Alexander, R Todd, Ali, Dalal S, Almoulia, Abdulrahman, Alrob, Hajar Abu, Alsarraf, Farah, Appelman-Dijkstra, Natasha M, Beck-Nielsen, Signe Sparre, Biosse-Duplan, Martin, Brandi, Maria Luisa, Carpenter, Thomas O, Chaussain, Catherine, Cohen-Solal, Martine, Crowley, Rachel K, Dandurand, Karel, Florenzano, Pablo, Gagnon, Claudia, Goodyer, Paul, Grimbly, Chelsey, Hussein, Salma, Imel, Erik A, Jan de Beur, Suzanne M, Javaid, Muhammad K, Lehman, Anna, Lems, Willem F   +23 more
core   +2 more sources

Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded

MedComm, Volume 6, Issue 7, July 2025.
Phosphate serves as a building block for physiological mineralization, and as a signaling molecule that regulates the activity of mineralizing cells. The disturbance in these processes could induce a series of pathological mineralization, with abnormal mineralization of hard tissues and ectopic mineralization of soft tissues being the most ...
Wen Qin, San‐yang Yu, Jia‐lu Gao, Jian‐fei Yan, Qian‐qian Wan, Shuai‐lin Jia, Franklin Tay, Kai Jiao, Lina Niu   +8 more
wiley   +1 more source

X‐Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment

Journal of Paediatrics and Child Health, Volume 61, Issue 5, Page 685-700, May 2025.
ABSTRACT X linked hypophosphataemia (XLH) is a systemic, chronic condition that significantly impairs quality of life. In XLH, a phosphate regulating endopeptidase homologue X‐linked (PHEX) gene mutation leads to excess fibroblast growth factor 23 (FGF23), causing hypophosphataemia and subsequent rickets, lower limb deformity, pain and other sequelae ...
Jessica L. Sandy, Andrew Biggin, Aris Siafarikas, Peter J. Simm, Christine P. Rodda, Craig F. Munns   +5 more
wiley   +1 more source

X-linked hypophosphatemic rickets and nephrocalcinosis: clinical characteristics of a single-center pediatric cohort in North America before and after burosumab

Frontiers in Pediatrics
BackgroundX-linked hypophosphatemic rickets (XLH) is a rare genetic disease characterized by inappropriately elevated circulating fibroblast growth factor 23 (FGF-23) and subsequent urinary phosphate wasting.
Neil J. Paloian, Lindsey R. Boyke-Lohmann, Lindsey R. Boyke-Lohmann, Robert D. Steiner   +3 more
doaj   +1 more source

Burosumab Provides Sustained Improvement in Phosphorus Homeostasis and Heals Rickets in Children Aged 1 to 4 Years With X-Linked Hypophosphatemia (XLH) [PDF]

, 2021
Gary S. Gottesman, Erik A. Imel, Thomas O. Carpenter, Angel Chen, Alison Skrinar, Mary Scott Roberts, Michael P. Whyte   +6 more
openalex   +1 more source

Pharmacodynamic Exposure–Response Analysis of Fracture Count Data Following Treatment with Burosumab in Patients with XLH

The Journal of Clinical Pharmacology, Volume 65, Issue 2, Page 253-260, February 2025.
Abstract X‐linked hypophosphatemia (XLH) is a rare genetic disorder caused by excessive fibroblast growth factor 23 (FGF23), leading to low serum phosphate levels resulting in increased risk of fractures and pseudofractures. Burosumab is indicated for the treatment of XLH.
Krina Mehta, Jose Storopoli, Nikita Ramwani, Emilia Quattrocchi, Joga Gobburu, Thomas Weber, Matthew W. Hruska, Douglas Marsteller   +7 more
wiley   +1 more source

Curative Effect Observation of Burosumab for Children and Adults with X-Linked Hypophosphatemicrickets

罕见病研究
We studied the patients diagnosed with X-linked hypophosphatemicrickets(XLH) and treated with burosumab in Peking Union Medical College Hospital from January 2021 to December 2022.
LIU Qingyang, HOU Zijing, YANG Zixia, LIU Xin, ZHANG Bo, TANG Yan   +5 more
doaj   +1 more source

De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab

Diagnostics, 2023
Pathogenic variants in the PHEX gene cause rare and severe X-linked dominant hypophosphataemia (XLH), a form of heritable hypophosphatemic rickets (HR) characterized by renal phosphate wasting and elevated fibroblast growth factor 23 (FGF23) levels ...
Carmine Pecoraro, Tiziana Fioretti, Assunta Perruno, Antonella Klain, Daniela Cioffi, Adelaide Ambrosio, Diego Passaro, Luigi Annicchiarico Petruzzelli, Carmela Di Domenico, Domenico de Girolamo, Sabrina Vallone, Fabio Cattaneo, Rosario Ammendola, Gabriella Esposito   +13 more
doaj   +1 more source