XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH)

Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries

(2023) M. Zulf Mughal et al.   Frontiers in Endocrinology

Benefit of burosumab in adults with X-linked hypophosphataemia (XLH) is maintained with long-term treatment

(2023) Peter Kamenicky et al.   RMD Open

Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia

(2022) Andrea Trombetti et al.   Nature Reviews Endocrinology

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

(2022) Stefan Kölker et al.   Frontiers in Endocrinology

X‐Linked Hypophosphatemia Caused by the Prevailing North American PHEX Variant c.*231A>G ; Exon 13–15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women

(2022) Kathryn McCrystal Dahir et al.   JBMR Plus

Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia

(2021) Raja Padidela et al.   CALCIFIED TISSUE INTERNATIONAL

Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review

(2021) S. Giannini et al.   OSTEOPOROSIS INTERNATIONAL

X-linked hypophosphatemia: The medical expert's challenges and the patient's concerns on their journey with the disease

(2021) Neveen A.T. Hamdy et al.   ARCHIVES DE PEDIATRIE

Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia

(2021) Agnès Linglart et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Health Care Transition From Pediatric- to Adult-Focused Care in X-linked Hypophosphatemia: Expert Consensus

(2021) Kathryn Dahir et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Musculoskeletal Features in Adults With X-linked Hypophosphatemia: An Analysis of Clinical Trial and Survey Data

(2021) Muhammad Kassim Javaid et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Oral health-related quality of life in patients with X-linked hypophosphatemia: a qualitative exploration

(2021) Caroline Nguyen et al.   Endocrine Connections

New Developments in the Treatment of X-Linked Hypophosphataemia: Implications for Clinical Management

(2020) Vrinda Saraff et al.   PEDIATRIC DRUGS

Complications of Phosphate and Vitamin D Treatment in X-Linked Hypophosphataemia

(2020) Pedro Arango Sancho   ADVANCES IN THERAPY

Exploring the burden of X-linked hypophosphatemia: a European multi-country qualitative study

(2020) S. H. Lo et al.   QUALITY OF LIFE RESEARCH

Growth Curves for Children with X-linked Hypophosphatemia

(2020) Meng Mao et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study

(2020) Raja Padidela et al.   Orphanet Journal of Rare Diseases

Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review

(2020) L. Seefried et al.   OSTEOPOROSIS INTERNATIONAL

Adherence to Medication During Transition to Adult Services

(2020) Bianca R. Campagna et al.   PEDIATRIC DRUGS

Higher prevalence of non-skeletal comorbidity related to X-linked hypophosphataemia: a UK parallel cohort study using CPRD

(2020) Samuel Hawley et al.   RHEUMATOLOGY

FGF23 and its role in X-linked hypophosphatemia-related morbidity

(2019) Signe Sparre Beck-Nielsen et al.   Orphanet Journal of Rare Diseases

X-linked hypophosphatemia: Management and treatment prospects

(2019) Anne-Sophie Lambert et al.   JOINT BONE SPINE

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

(2019) Erik A Imel et al.   LANCET

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

(2019) Dieter Haffner et al.   Nature Reviews Nephrology

Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period

(2019) Anthony A. Portale et al.   CALCIFIED TISSUE INTERNATIONAL

Burosumab Improved Histomorphometric Measures of Osteomalacia in Adults with X‐Linked Hypophosphatemia: A Phase 3, Single‐Arm, International Trial

(2019) Karl L Insogna et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Exploring the Burden of X-Linked Hypophosphataemia: An Opportunistic Qualitative Study of Patient Statements Generated During a Technology Appraisal

(2019) Nermina Ferizović et al.   ADVANCES IN THERAPY

High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X-Linked Hypophosphatemic Rickets (XLHR)

(2018) Anya Rothenbuhler et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms

(2016) Hélène Che et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Therapeutic management of hypophosphatemic rickets from infancy to adulthood

(2014) Agnès Linglart et al.   Endocrine Connections

Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment

(2011) Catherine Quinlan et al.   PEDIATRIC NEPHROLOGY