Results 91 to 100 of about 2,648 (201)

Quality of life of 26 family members from four generations with X-linked hypophosphatemia: a cross-sectional study

Frontiers in Endocrinology
IntroductionX-linked hypophosphatemia (XLH) is a lifelong, progressive genetic condition affecting patients’ physical health and quality of life.MethodsThis cross-sectional study aimed to understand the burden of XLH on four generations of family members
Afaf I. Alsagheir, Afaf I. Alsagheir, Bassam Bin-Abbas, Bassam Bin-Abbas, Nujud M. Alghamdi, Raghad T. Alhuthil, Sarah A. Murad, Tala H. Husein, M. Zulf Mughal, Zehour E. Alsabban, Layla M. Almarzoug, Khushnooda Ramzan   +11 more
doaj   +1 more source

Epidemiological analysis to identify predictors of X-linked hypophosphatemia (XLH) diagnosis in an Italian pediatric population: the EPIX project

Purpose: X-linked hypophosphatemia (XLH) is a rare multi-systemic disease characterized by low plasma phosphate levels. The aim of this study was to investigate the annual XLH prevalence and internally evaluate predictive algorithms' application ...
Lazzerini, Debora, Alessi, Ylenia, Crisafulli, Salvatore, Ingrasciotta, Ylenia, Trifirò, Gianluca, Ferraù, Francesco, Vitturi, Giacomo, Cantarutti, Luigi, Fontana, Andrea, L'Abbate, Luca, Cannavò, Salvatore   +10 more
core   +1 more source

SUN-759 Real-World Outcomes in Late Adolescence Among Individuals With X-linked Hypophosphatemia (XLH): Results From the XLH Disease Monitoring Program

Journal of the Endocrine Society
Abstract Disclosure: A.A. Khan: Ascendis, Takeda, Amolyt, Bridge Bio, Alexion Pharmaceuticals, Inc. E.A. Imel: Kyowa Kirin, Ultragenyx. L.M. Ward: Kyowa Kirin, Ultragenyx. T.O. Carpenter: Kyowa Kirin, Ultragenyx. J. Simmons: Kyowa Kirin, Ultragenyx. P.F. Florenzano: Kyowa Kirin, Ultragenyx. J. Li: Kyowa Kirin. S.
Khan, Aliya Aziz, Imel, Erik Allen, Ward, Leanne Marie, Carpenter, Thomas O, Simmons, Jill, Florenzano, Pablo F, Li, Jerry, Tewari, Shubham, Sader, Soraya, Vincent, Marc, Cassinelli, Hamilton   +10 more
openaire   +1 more source

Lower limb maltorsion and acetabular deformity in children and adolescents with X-linked hypophosphatemia

Frontiers in Endocrinology
BackgroundX-linked hypophosphatemia (XLH) is a rare monogenetic skeletal disorder. Lower limb deformities contribute substantially to impaired gait quality and burden of disease in patients with XLH.
Alexandra Stauffer, Alexandra Stauffer, Adalbert Raimann, Adalbert Raimann, Stefan Penzkofer, Rudolf Ganger, Rudolf Ganger, Christof Radler, Christof Radler, Gabriel T. Mindler, Gabriel T. Mindler   +10 more
doaj   +1 more source

Oral Health Status and Parental Awareness in Children with X-Linked Hypophosphatemic Rickets: A Case-Control Study

Reports
X-linked hypophosphatemic rickets (XLH) is a rare genetic disorder with a frequency of 1:20,000, caused by mutations in the PHEX gene, resulting in impaired phosphate metabolism and bone mineralization.
Victoria Zlateva, Krasimir Hristov, Zdravka Todorova, Ralitsa Bogovska-Gigova   +3 more
doaj   +1 more source

Impact of stopping burosumab treatment at the end of skeletal growth in adolescents with X-linked hypophosphatemia (XLH)

Many adolescents with X-linked hypophosphatemia (XLH) currently have to stop treatment with burosumab at the end of skeletal growth. We describe the experience of a cohort of adolescents with XLH before, during, and after stopping burosumab (median ...
Angela Williams, Suma Uday, Charlotte Jarvis, Annabel Nixon, Sanjay Gupta, Renuka Ramakrishnan, Talat Mushtaq, Helen Barham, Poonam Dharmaraj, Angela J. Rylands   +9 more
core   +1 more source

Disease burden and health-related quality of life among children with X-linked hypophosphataemia in China: a national cross-sectional survey

BMJ Paediatrics Open
Background X-linked hypophosphataemia (XLH) is a rare inherited disorder often misdiagnosed and lacking sufficient aetiological treatment. Previous studies have shown that XLH is associated with worse health-related quality of life (HRQoL) and greater ...
Li Liu, Chunlin Jin, Ying Chen, Lin Zhu, Aihua Zhang, Feihong Luo, Zhenqing Tang, Jiahao Hu, Dingguo Li, Qi Kang   +9 more
doaj   +1 more source

Overview of data collection schedule for quantitative and qualitative data relating to XLH symptoms and activity levels.

Overview of data collection schedule for quantitative and qualitative data relating to XLH symptoms and activity levels.
Pol Harvengt (17816963), Fiona Glen (6307181), Elin Haf Davies (11149179), Annemieke M. Boot (17816960), Vrinda Saraff (12270904), Angela J. Rylands (17816972), Angela Williams (292362), Sue Wood (17816966), Oliver Semler (15260698), Agnès Linglart (381330), Stephen Greentree (17816969), Karen M. A. Bailey (11100504)   +11 more
core   +1 more source

9324 X-Linked Hypophosphatemic Rickets (XLH): Experience Argentina

Journal of the Endocrine Society
Abstract Disclosure: E. Giacoia: Research Investigator; Self; Ultragenyx. A.C. Cantó: Research Investigator; Self; Ultragenyx. M.C. Balonga: Research Investigator; Self; Ultragenyx. Introduction: XLH is a genetic disease characterized by rickets and osteomalacia caused by pathogenic variants in PHEX with disruptions in ...
Giacoia, E, Cantó, A C, Balonga, M C
openaire   +1 more source

X-linked Hypophosphatemia (XLH): Burosumab Significantly Improved Rickets and Standing Height Z-Score Compared with Conventional Therapy in Children with XLH [PDF]

Journal of Pediatric Nursing, 2020
Marian Hart, Elizabeth Olear, Angel Chen, Isabel Couto, Erik A. Imel, Thomas O. Carpenter, Kathryn Dahir, Margo Black   +7 more
openaire   +1 more source