[HTML][HTML] Epidemiological analysis to identify predictors of X-linked hypophosphatemia (XLH) diagnosis in an Italian pediatric population: the EPIX project
S Crisafulli, Y Ingrasciotta, G Vitturi, A Fontana… - Endocrine, 2024 - Springer
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 …
by low plasma phosphate levels. The aim of this study was to investigate the annual XLH …
[HTML][HTML] Improving the diagnosis of X-linked hypophosphatemia: Recommendations to optimize diagnostic flow and clinician/geneticist cooperation in the Italian …
E Agolini, R Chimenz, D Fintini, V Guarnieri… - …, 2021 - journals.aboutscience.eu
Objective: To provide Italian expert opinion-based practical recommendations to improve the
cooperation between clinicians and geneticists in order to optimize diagnostic flow and care …
cooperation between clinicians and geneticists in order to optimize diagnostic flow and care …
[PDF][PDF] The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data
G Ariceta Iraola, S Beck-Nielsen, A Boot, ML Brandi… - 2023 - scientiasalut.gencat.cat
Background X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal
phosphate-wasting disorder characterized by a pathological increase in FGF23 …
phosphate-wasting disorder characterized by a pathological increase in FGF23 …
[HTML][HTML] Increased prevalence of overweight and obesity in children with X-linked hypophosphatemia
VV Zhukouskaya, A Rothenbuhler… - Endocrine …, 2020 - ec.bioscientifica.com
Background/aim X-linked hypophosphatemia (XLH) is a rare disease characterized by low
phosphate levels. Scientific evidence points to a link between hypophosphatemia and …
phosphate levels. Scientific evidence points to a link between hypophosphatemia and …
[HTML][HTML] The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data
G Ariceta, SS Beck-Nielsen, AM Boot… - Orphanet journal of rare …, 2023 - Springer
Background X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal
phosphate-wasting disorder characterized by a pathological increase in FGF23 …
phosphate-wasting disorder characterized by a pathological increase in FGF23 …
Prevalence and mortality of individuals with X-linked hypophosphatemia: a United Kingdom real-world data analysis
S Hawley, NJ Shaw, A Delmestri… - The Journal of …, 2020 - academic.oup.com
Background X-linked hypophosphatemia (XLH) is a rare multisystemic disease with a
prominent musculoskeletal phenotype. We aim here to improve understanding of the …
prominent musculoskeletal phenotype. We aim here to improve understanding of the …
Clinical practice recommendations for the diagnosis and treatment of X-linked hypophosphatemia: A consensus based on the ADAPTE method
D González-Lamuño, AL Rodríguez, MIL Yanes… - … Clínica (English Edition), 2022 - Elsevier
Background and objective The objective of this project was to adapt to our setting following a
systematic process based on the ADAPTE method the first clinical practice guidelines on X …
systematic process based on the ADAPTE method the first clinical practice guidelines on X …
The diagnostic odyssey in children and adolescents with X-linked hypophosphataemia: population-based, case-control study
F Boardman-Pretty, AK Clift, H Mahon… - The Journal of …, 2024 - academic.oup.com
Context X-linked hypophosphataemia (XLH) is a rare genetic disorder causing renal
phosphate wasting, which predicates musculoskeletal manifestations such as rickets …
phosphate wasting, which predicates musculoskeletal manifestations such as rickets …
[HTML][HTML] X-linked hypophosphatemic rickets: an Italian experts' opinion survey
F Emma, M Cappa, F Antoniazzi, ML Bianchi… - Italian journal of …, 2019 - Springer
Background X-linked hypophosphatemic rickets (XLH) is the first cause of inherited
hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive …
hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive …
[HTML][HTML] Presentation and Diagnosis of Pediatric X-Linked Hypophosphatemia
K Ikegawa, Y Hasegawa - Endocrines, 2023 - mdpi.com
X-linked hypophosphatemia (XLH) is a rare type of hereditary hypophosphatemic rickets.
Patients with XLH have various symptoms that lower their QOL as defined by HAQ, RAPID3 …
Patients with XLH have various symptoms that lower their QOL as defined by HAQ, RAPID3 …