Patient-reported outcomes measures of X-linked hypophosphataemia participants: findings from a prospective cohort study in the UK

Patient-reported outcomes measures of X-linked hypophosphataemia participants: findings from a prospective cohort study in the UK

<p><strong>Background</strong> X-linked hypophosphataemia (XLH) is a rare genetic condition passed on through the X chromosome which causes multiple symptoms including weakened teeth, bones, and muscles. Due to the rarity of the condition, little is known about the health outcomes...

Descripció completa

Dades bibliogràfiques
Autors principals:	Cole, S, Sanchez-Santos, MT, Kolovos, S, Javaid, MK, Pinedo-Villanueva, R
Format:	Journal article
Idioma:	English
Publicat:	BioMed Central 2023

Ítems similars

Patient-reported outcomes measures of X-linked hypophosphataemia participants: findings from a prospective cohort study in the UK
per: Sophie Cole, et al.
Publicat: (2023-02-01)

Subgroups of adults with X-linked hypophosphataemia: cluster analysis of patient-reported outcome measures of participants in a UK rare diseases cohort
per: Cole, S, et al.
Publicat: (2021)

Patient-reported outcomes of X-linked hypophosphataemia registry participants in the UK
per: Cole, S, et al.
Publicat: (2021)

A longitudinal study of patient-reported outcomes of RUDY registry participants with X-linked hypophosphataemia in the UK
per: Cole, S, et al.
Publicat: (2021)

A cross-sectional study of patient-reported outcomes of individuals with X-linked hypophosphataemia within the UK
per: Cole, S, et al.
Publicat: (2021)

Cluster analysis of patient-reported outcome measures of adults with X-linked hypophosphataemia
per: Cole, S, et al.
Publicat: (2022)

Valuation of lost productivity of adults with X-linked Hypophosphataemia and Osteogenesis imperfecta
per: Cole, S, et al.
Publicat: (2023)

Higher prevalence of non-skeletal comorbidity related to X-linked hypophosphataemia: A UK parallel cohort study using CPRD
per: Hawley, S, et al.
Publicat: (2020)

X-linked hypophosphataemia: prevalence and mortality rate within the United Kingdom Clinical Practice Research Datalink
per: Hawley, S, et al.
Publicat: (2019)

X-linked hypophosphataemia: burden of disease using United Kingdom primary care data
per: Javaid, M, et al.
Publicat: (2018)

Change in patient-reported outcomes of XLH registry participants in the UK: a longitudinal study
per: Cole, S, et al.
Publicat: (2021)

Prevalence and mortality of individuals with X-linked hypophosphataemia: a United Kingdom real world data analysis
per: Hawley, S, et al.
Publicat: (2019)

Quality of life in adults with X-linked hypophosphataemia (XLH): Preservation of emotional well-being despite significant limitations in physical domains
per: Pinedo-Villanueva, R, et al.
Publicat: (2017)

Left Ventricular Hypertrophy in Patients with X-Linked Hypophosphataemia
per: Ana Castellano-Martinez, et al.
Publicat: (2022-09-01)

Valuation of lost productivity for individuals diagnosed with Osteogenesis imperfecta: follow-up findings from the Rudy Cohort Study in the UK
per: Cole, S, et al.
Publicat: (2022)

Benefit of burosumab in adults with X-linked hypophosphataemia (XLH) is maintained with long-term treatment
per: Karine Briot, et al.
Publicat: (2023-02-01)

Mutations of the PEX regulatory and C-terminal regions cause X-linked hypophosphataemia.
per: Dixon, P, et al.
Publicat: (1997)

XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH)
per: Lothar Seefried, et al.
Publicat: (2023-10-01)

Hospital admissions of patients with osteogenesis imperfecta in the English NHS
per: Kolovos, S, et al.
Publicat: (2021)

Prevalence of cardiovascular disease events and determinants in patients with x-linked hypophosphatemia
per: Maronga, C, et al.
Publicat: (2023)

Prevalence and risk factors of hypertension among patients with X-linked hypophosphatemia
per: Maronga, C, et al.
Publicat: (2023)

Long-term outcomes for Asian patients with X-linked hypophosphataemia: rationale and design of the SUNFLOWER longitudinal, observational cohort study
per: Takuo Kubota, et al.
Publicat: (2020-06-01)

Description of hospital use by patients with osteogenesis imperfecta in the English NHS
per: Kolovos, S, et al.
Publicat: (2020)

The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study
per: Raja Padidela, et al.
Publicat: (2020-06-01)

Rare genetic diseases of the bone tissue: the case of a family with osteogenesis imperfecta and X-linked hypophosphataemia
per: Irina Yu. Popova, et al.
Publicat: (2018-04-01)

Hypophosphataemia masquerading as ankylosing spondylitis
per: Wordsworth, B, et al.
Publicat: (2008)

Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia
per: Yanting Yang, et al.
Publicat: (2022-02-01)

A patient-centred and multi-stakeholder co-designed observational prospective study protocol: Example of the adolescent experience of treatment for X-linked hypophosphataemia (XLH).
per: Vrinda Saraff, et al.
Publicat: (2024-01-01)

Hypophosphataemia: An under-recognized cause of spondyloarthropathy
per: Wordsworth, P, et al.
Publicat: (2008)

Improvements with burosumab treatment in an early access programme for adults with X-linked hypophosphataemia: A case series of three patients
per: Julia Day, et al.
Publicat: (2024-12-01)

Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description
per: Maria Luisa Brandi, et al.
Publicat: (2022-09-01)

A literature review of the healthcare resource use and productivity burden of X-linked hypophosphatemia
per: Pinedo Villanueva, R, et al.
Publicat: (2023)

Hypophosphataemia with non-tenofovir-containing antiretroviral therapy.
per: Wainwright, E, et al.
Publicat: (2013)

Early hypophosphataemia in at risk newborns. Frequency and magnitude
per: Gerardo Bustos Lozano, et al.
Publicat: (2018-04-01)

Isolated hypophosphataemia as an early marker of primary hyperparathyroidism
per: John Alexander, et al.
Publicat: (2021-06-01)

Disease burden and health-related quality of life among children with X-linked hypophosphataemia in China: a national cross-sectional survey
per: Li Liu, et al.
Publicat: (2025-03-01)

Valuation of lost productivity for people with osteogenesis imperfecta: preliminary results from the RUDY cohort
per: Cole, SE, et al.
Publicat: (2022)

Severe asymptomatic hypophosphataemia in a child with T-acute lymphoblastic leukaemia
per: Zakaria, N.H., et al.
Publicat: (2017)

An uncommon cause for severe hypophosphataemia after transsphenoidal pituitary surgery
per: Ramamani Mariappan, et al.
Publicat: (2014-05-01)

Acute onset quadriparesis following oesophagectomy due to isolated hypophosphataemia
per: Vibhavari M Naik, et al.
Publicat: (2019-01-01)