Results 61 to 70 of about 2,648 (201)

Exploring the Content Validity of Patient‐Reported Outcome Measures to Capture the Patient Experience of Becker Muscular Dystrophy

Muscle &Nerve, Volume 74, Issue 3, Page 559-569, September 2026.
ABSTRACT Introduction/Aims The patient experience of Becker muscular dystrophy (BMD) is not well understood, making it difficult to evaluate the conceptual relevance of proposed patient‐reported outcome (PRO) measures. This study aimed to conceptualize the patient experience of BMD and evaluate content validity and perceptions of meaningful changes of ...
Abby Bronson, Katie Mellor, Nicole Kilburn, Ryan Fischer, Natalie Aldhouse, Chris Marshall, Tamara Al‐zubeidi   +6 more
wiley   +1 more source

Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil

Archives of Endocrinology and Metabolism, 2020
Objective: The aim of this cross-sectional study was to estimate the prevalence of XLH in Paraná, a state in southern Brazil, and report the clinical features and complications of the disease.
Carolina Aguiar Moreira, Tatiana M. R. Lemos Costa, Julia Vieira Oberger Marques, Lucimary Sylvestre, Ana Cristina R. Almeida, Eliane M. C. P. Maluf, Victória Z. C. Borba   +6 more
doaj   +1 more source

Clinical Diagnosis, Genetic Background and Treatment of Vitamin-D Resistant Hypophosphatemic Ricket

, 2023
X-linked hypophosphatemia (XLH) is the most common heritable form of rickets. It involves loss-of-function mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, which give rise to the increase of fibroblast growth factor 23 ...
Tran, Luong Minh Khoi
core  

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

Hypophosphataemia following iron infusion: a narrative review of an increasingly recognised complication

Internal Medicine Journal, Volume 56, Issue 9, Page 1500-1509, September 2026.
Abstract Parenteral iron is widely prescribed by medical practitioners, with more than 600 000 outpatient prescriptions dispensed in 2025 through the Australian Pharmaceutical Benefits Scheme. While intravenous iron has transformed the management of iron deficiency, hypophosphataemia is now recognised as a common complication, with incidences reported ...
Brenda Ta, Stephanie Baddock, Jane Ludington, Angela Sheu   +3 more
wiley   +1 more source

Papilledema in the Setting of X-Linked Hypophosphatemic Rickets with Craniosynostosis

Case Reports in Ophthalmology, 2011
Purpose: Introduction to the ophthalmic literature of an unusual cause of papilledema and subsequent optic atrophy: X-linked hypophosphatemic rickets (XLH).
Lora R. Dagi Glass, Teodoro Forcht Dagi, Linda R. Dagi   +2 more
doaj   +1 more source

Dipole‐Manipulated Built‐In Electric Field Enables Ultrafast Charge Separation in Perylene Diimide Polymers for Photoelectrochemical Water Splitting

Advanced Science, Volume 13, Issue 43, 3 August 2026.
Molecular dipole engineering in dendritic perylene diimide polymers through nitrogen‐rich heterocyclic linkers amplifies the built‐in electric field, enabling sub‐picosecond charge separation and efficient multi‐electron accumulation. This structure–dynamics–performance relationship establishes a versatile design strategy for high‐performance organic ...
Ying‐Xin Qiao, Zicong Situ, Yi‐Jing Chen, Shuo‐Xiang Liu, Jing‐Lan Zhang, Xingqing Li, Luo‐Han Xie, Si‐Hang Xie, Qing‐Xiao Tong, Andong Xia, Zhuoran Kuang, Jing‐Xin Jian   +11 more
wiley   +1 more source

In Situ Investigation of Microstructure Evolution and Stress Generation During Low‐Pressure Carburizing and Quenching by Means of Synchrotron X‐Ray Diffraction

steel research international, Volume 97, Issue 7, Page 3642-3662, July 2026.
This study uses in situ synchrotron X‐ray diffraction at the German Electron Synchrotron to analyze low‐pressure carburizing (LPC) in steels. The findings reveal surface carbon saturation and carbide formation kinetics, and phase‐specific stress development during quenching. The results show carbide kinetics depend on steel grade and size, while stress
Ogün Baris Tapar, Michael Georg Zürn, Jens Gibmeier, Antonio Carlos de Figueiredo Silveira, Matthias Steinbacher, Norbert Schell, Jérémy Epp   +6 more
wiley   +1 more source

Behavioral and Historical Processes Jointly Maintain Genetic Connectivity in Fragmented Chinese Water Deer Populations

Ecology and Evolution, Volume 16, Issue 6, June 2026.
We challenge a major paradigm in mammalian ecology by demonstrating female‐biased dispersal in an artiodactyl, the endangered Chinese water deer. This key behavioral mechanism drives high gene flow across a fragmented landscape, effectively creating a genetic rescue effect that maintains population connectivity and counters inbreeding. ABSTRACT Habitat
Zongzhi Li, Peng Liu, Zhirong Zhang, Junda Chen, Zhensheng Liu, Liwei Teng   +5 more
wiley   +1 more source

X‐linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment

Clinical Case Reports, 2022
X‐linked hypophosphatemia (XLH) is a rare disexase in which patients present with severe bowing of the legs, joint pain, and mobility problems. XLH has major adverse repercussions on the quality of life.
Marcia Janneth Bermeo Cabrera, Pablo Roberto Ordoñez Chacha, Alfredo Adolfo Reza‐Albarrán, Ana Karina Ordoñez Chacha, Marcy Acosta Acero, Agustin Rodas Serrano   +5 more
doaj   +1 more source