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Raising awareness about my rare disease X-Linked Hypophosphatemia (XLH)
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This was a project of more than 100 organizations to prepare for a new conservative administration through policy, training, and personnel.
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depts.washington.edu
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Sharing my XLH Story
Overcoming Adversity – canadianxlhnetwork.org
Overcoming Adversity – canadianxlhnetwork.org
Recently Added
Inherited phosphate and pyrophosphate disorders
Document
Inherited phosphate and pyrophosphate disorders
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia - Nature Reviews Nephrology
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia - Nature Reviews Nephrology
www.osteoporosis.foundation
www.osteoporosis.foundation
Improved Oral Health in Adults with X-Linked Hypophosphatemia Treated with Burosumab
Improved Oral Health in Adults with X-Linked Hypophosphatemia Treated with Burosumab
Hyperparathyroidism and Parathyroidectomy in X-linked Hypophosphatemia Patients
Hyperparathyroidism and Parathyroidectomy in X-linked Hypophosphatemia Patients
Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series
Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series
Complications and Treatments in Adult X-Linked Hypophosphatemia
Complications and Treatments in Adult X-Linked Hypophosphatemia
X-linked hypophosphatemia (XLH) is a rare inherited disorder involving elevated levels of fibroblast growth factor (FGF) 23, and is caused by loss-of-function mutations in the PHEX gene. FGF23 induces renal phosphate wasting and suppresses the activation of vitamin D, resulting in defective bone mineralization and rachitic changes in the growth plate and osteomalacia. Conventional treatment with combinations of oral inorganic phosphate and active vitamin D analogs enhances bone calcification, but the efficacy of conventional treatment is insufficient for adult XLH patients to achieve an acceptable quality of life. Burosumab, a fully human monoclonal anti-FGF23 antibody, binds and inhibits FGF23, correcting hypophosphatemia and hypovitaminosis D. This review describes a typical adult with XLH and summarizes the results of clinical trials of burosumab in adults with XLH.
XLH Research/Resources
An Evidence-based Physical Therapy Prescription for Adults With X-linked Hypophosphatemia
An Evidence-based Physical Therapy Prescription for Adults With X-linked Hypophosphatemia
Whole Body, Whole Life, Whole Family: Patients’ Perspectives on X-Linked Hypophosphatemia
Whole Body, Whole Life, Whole Family: Patients’ Perspectives on X-Linked Hypophosphatemia
X-linked hypophosphatemia, not only a skeletal disease but also a chronic inflammatory state
X-linked hypophosphatemia, not only a skeletal disease but also a chronic inflammatory state
Osteoarthritis, Osteophytes, and Enthesophytes Affect Biomechanical Function in Adults With X-linked Hypophosphatemia
Osteoarthritis, Osteophytes, and Enthesophytes Affect Biomechanical Function in Adults With X-linked Hypophosphatemia
AbstractContext. X-Linked hypophosphatemia (XLH) is a lifelong metabolic disease with musculoskeletal comorbidities that dominate the adult clinical presen
jag.journalagent.com
jag.journalagent.com
XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH)
XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH)
Intact Fibroblast growth factor 23 concentrations in Hypophosphatemic disorders
Intact Fibroblast growth factor 23 concentrations in Hypophosphatemic disorders
[Interview] ‘Adult XLH patients must get benefits for same treatments as children’
[Interview] ‘Adult XLH patients must get benefits for same treatments as children’
X-linked hypophosphatemia (XLH) is a rare, inherited disorder caused by a mutation in the PHEX gene located on the X chromosome. This mutation leads to an increased amount of fibroblast growth factor (FGF23) in the body, which impairs phosphate reabsorption in the kidneys, causing chronic hypophosph
Impact of X-Linked Hypophosphatemia on Muscle Symptoms
Impact of X-Linked Hypophosphatemia on Muscle Symptoms
X-linked hypophosphatemia (XLH) is the most common hereditary form of rickets and deficiency of renal tubular phosphate transport in humans. XLH is caused by the inactivation of mutations within the phosphate-regulating endopeptidase homolog ...
The Enthesopathy of XLH Is a Mechanical Adaptation to Osteomalacia: Biomechanical Evidence from Hyp Mice - Calcified Tissue International
The Enthesopathy of XLH Is a Mechanical Adaptation to Osteomalacia: Biomechanical Evidence from Hyp Mice - Calcified Tissue International
A major comorbidity of X-linked hypophosphatemia (XLH) is fibrocartilaginous tendinous insertion site mineralization resulting in painful enthesophytes tha
The Diagnostic Odyssey in Children and Adolescents With X-linked Hypophosphatemia: Population-Based, Case–Control Study
The Diagnostic Odyssey in Children and Adolescents With X-linked Hypophosphatemia: Population-Based, Case–Control Study
Giving Credence to the Experience of X-Linked Hypophosphatemia in Adulthood: An Interprofessional Mixed Methods Study
Giving Credence to the Experience of X-Linked Hypophosphatemia in Adulthood: An Interprofessional Mixed Methods Study
Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Liked Hypophosphatemia
Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Liked Hypophosphatemia
Development of Enthesopathies and Joint Structural Damage in a Murine Model of X-Linked Hypophosphatemia
Development of Enthesopathies and Joint Structural Damage in a Murine Model of X-Linked Hypophosphatemia
Biomechanical impact of Phosphate Wasting on Articular Cartilage using the murine hyp model of x-linked hypophosphatemia
Biomechanical impact of Phosphate Wasting on Articular Cartilage using the murine hyp model of x-linked hypophosphatemia
The unrecognized burden of XLH in adults A call to action
The unrecognized burden of XLH in adults A call to action
Effect of Burosumab on muscle function and strength, and rates of ATP synthesis in skeletal muscle in adults with XLH
Effect of Burosumab on muscle function and strength, and rates of ATP synthesis in skeletal muscle in adults with XLH
X-Linked Hypophosphatemia - GeneReviews® - NCBI Bookshelf
X-Linked Hypophosphatemia - GeneReviews® - NCBI Bookshelf
Mineralizing Enthesopathy Is a Common Feature of Renal Phosphate-Wasting Disorders Attributed to FGF23 and Is Exacerbated by Standard Therapy in Hyp Mice
Mineralizing Enthesopathy Is a Common Feature of Renal Phosphate-Wasting Disorders Attributed to FGF23 and Is Exacerbated by Standard Therapy in Hyp Mice
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations
Assessment Algorithm for Pediatric Patients with Suspected X-Linked Hypophosphatemia
Assessment Algorithm for Pediatric Patients with Suspected X-Linked Hypophosphatemia
The Enthesopathy of XLH Is a Mechanical Adaptation to Osteomalacia: Biomechanical Evidence from Hyp Mice - Calcified Tissue International
The Enthesopathy of XLH Is a Mechanical Adaptation to Osteomalacia: Biomechanical Evidence from Hyp Mice - Calcified Tissue International
1,25-dihydroxyvitamin D alone improves Skeletal Growth, Microarchitecture and Strength in a Murine model of XLH, despite enhanced FGF23 expression
1,25-dihydroxyvitamin D alone improves Skeletal Growth, Microarchitecture and Strength in a Murine model of XLH, despite enhanced FGF23 expression
Cellular and Molecular Alterations Underlying Abnormal Bone Growth in X-Linked Hypophosphatemia
Cellular and Molecular Alterations Underlying Abnormal Bone Growth in X-Linked Hypophosphatemia
The role of GDF5 in regulating enthesopathy development in the Hyp mouse model of XLH - PubMed
The role of GDF5 in regulating enthesopathy development in the Hyp mouse model of XLH - PubMed
Non-Surgical Strategies for Managing Skeletal Deformities in a Child with X-Linked Hereditary Hypophosphatemic Ricket: Insights and Perspectives
Non-Surgical Strategies for Managing Skeletal Deformities in a Child with X-Linked Hereditary Hypophosphatemic Ricket: Insights and Perspectives
Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice
Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice
Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium
Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium
Burosumab Therapy in Children with X-Linked Hypophosphatemia
Burosumab Therapy in Children with X-Linked Hypophosphatemia
Congenital conditions of hypophosphatemia in children
Congenital conditions of hypophosphatemia in children
Red flag signs and symptoms of X-Linked Hypophosphatemia (xlh) in Pediatric Patients
Red flag signs and symptoms of X-Linked Hypophosphatemia (xlh) in Pediatric Patients
Serum Levels of Lipocalin Are Lower in Adolescents With X-Linked Hypophosphatemia
Serum Levels of Lipocalin Are Lower in Adolescents With X-Linked Hypophosphatemia
Hearing Impairment and XLH
Hearing Impairment and XLH
International XLH Alliance our 12 recommendations Access your best care
International XLH Alliance our 12 recommendations Access your best care
Health-related quality of life of children with X-linked hypophosphatemia in Germany
Health-related quality of life of children with X-linked hypophosphatemia in Germany
Mutation in Phex Gene Predisposes BALB/c-PhexHyp-Duk/Y Mice to Otitis Media
Mutation in Phex Gene Predisposes BALB/c-PhexHyp-Duk/Y Mice to Otitis Media
Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)
Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)
A CLINICIAN'S GUIDE TO X-LINKED HYPOPHOSPHATEMIA
A CLINICIAN'S GUIDE TO X-LINKED HYPOPHOSPHATEMIA
X-LINKED HYPOPHOSPHATEMIA A DISEASE FOR LIFE
X-LINKED HYPOPHOSPHATEMIA A DISEASE FOR LIFE
Adults With XLH Would Benefit From More Comprehensive Care, Study Says
Adults With XLH Would Benefit From More Comprehensive Care, Study Says
Health Care Transition From Pediatric- to Adult-Focused Care in X-linked Hypophosphatemia: Expert Consensus
Health Care Transition From Pediatric- to Adult-Focused Care in X-linked Hypophosphatemia: Expert Consensus
Potential influences on optimizing long-term musculoskeletal health in children and adolescents with X-linked hypophosphatemia (XLH) - Orphanet Journal of Rare Diseases
Potential influences on optimizing long-term musculoskeletal health in children and adolescents with X-linked hypophosphatemia (XLH) - Orphanet Journal of Rare Diseases
Soft and weak bones? Have you heard of X-linked hypophosphatemia (XLH)? Learn more about this disease and its symptoms.
Soft and weak bones? Have you heard of X-linked hypophosphatemia (XLH)? Learn more about this disease and its symptoms.
Familial Hypophosphatemia - NORD (National Organization for Rare Disorders)
Familial Hypophosphatemia - NORD (National Organization for Rare Disorders)
Hereditary hypophosphatemic rickets: MedlinePlus Genetics
Hereditary hypophosphatemic rickets: MedlinePlus Genetics
Progress in Rare Diseases: Coming to a better understanding of X-linked hypophosphatemia (XLH) - IFMRS HubLE
Progress in Rare Diseases: Coming to a better understanding of X-linked hypophosphatemia (XLH) - IFMRS HubLE
A Novel therapeutic strategy for skeletal disorders: Proof of concept of gene therapy for X-Linked Hypophosphatemia
A Novel therapeutic strategy for skeletal disorders: Proof of concept of gene therapy for X-Linked Hypophosphatemia
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey
The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey
X-linked hypophosphatemia: The medical expert's challenges and the patient's concerns on their journey with the disease
X-linked hypophosphatemia: The medical expert's challenges and the patient's concerns on their journey with the disease
National XLH Day 2022
National XLH Day 2022
FAIR Toolkit: How to Access and Maintain Social Security Benefits
FAIR Toolkit: How to Access and Maintain Social Security Benefits
globalgenes.org
globalgenes.org
Improving care pathways for people living with rare bone diseases (RBDs): outcomes from the first RBD Summit
Improving care pathways for people living with rare bone diseases (RBDs): outcomes from the first RBD Summit
XLH & Dental Research
Dental impact of anti-fibroblast growth factor 23 therapy in X-linked hypophosphatemia - International Journal of Oral Science
Dental impact of anti-fibroblast growth factor 23 therapy in X-linked hypophosphatemia - International Journal of Oral Science
Effect of Conventional Treatment on Dental Complications and Ectopic Ossifications Among 30 Adults With XLH
Effect of Conventional Treatment on Dental Complications and Ectopic Ossifications Among 30 Adults With XLH
The Dental Aspects of X-Linked Hypophosphatemai
The Dental Aspects of X-Linked Hypophosphatemai
X-linked hypophosphatemia diagnosed after identification of dental symptoms
X-linked hypophosphatemia diagnosed after identification of dental symptoms
Oral health‐related quality of life in X‐linked hypophosphataemia and osteogenesis imperfecta
Oral health‐related quality of life in X‐linked hypophosphataemia and osteogenesis imperfecta
Dental management of patients with X-linked hypophosphatemia
Dental management of patients with X-linked hypophosphatemia
Oral health-related quality of life in patients with X-linked hypophosphatemia: a qualitative exploration
Oral health-related quality of life in patients with X-linked hypophosphatemia: a qualitative exploration
Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures
Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures
Prosthetic rehabilitation of a patient with X-linked hypophosphatemia using dental implants: a case report and review of the literature - International Journal of Implant Dentistry
Prosthetic rehabilitation of a patient with X-linked hypophosphatemia using dental implants: a case report and review of the literature - International Journal of Implant Dentistry
Dental Manifestations » International XLH Alliance
Dental Manifestations » International XLH Alliance
Hypophosphatemic Rickets Accelerate Chondrogenesis and Cell Trans-differentiation from TMJ Chondrocytes into Bone Cells via a Sharp Increase in β-Catenin
Hypophosphatemic Rickets Accelerate Chondrogenesis and Cell Trans-differentiation from TMJ Chondrocytes into Bone Cells via a Sharp Increase in β-Catenin
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1 - PubMed
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1 - PubMed
XLH/You Tube Videos
Behind the mystery of x-linked hypophosphatemia youtu.be
Behind the mystery of x-linked hypophosphatemia youtu.be
XLH Strong! Official Lyric Video
XLH Strong! Official Lyric Video
Advocating for XLH on Capitol Hill
Advocating for XLH on Capitol Hill
Virtual XLH Day 2021
Virtual XLH Day 2021
Educator With a Heart for Helping Kids Finds Relief from Pain Caused by Rickets (Brett Crist, MD)
Educator With a Heart for Helping Kids Finds Relief from Pain Caused by Rickets (Brett Crist, MD)
Virtual XLH Day 2021 Hearing Loss Webinar
Virtual XLH Day 2021 Hearing Loss Webinar
XLH & The Covid Vaccine
XLH & The Covid Vaccine
Virtual XLH Week 2020 The Landscape Ahead
Virtual XLH Week 2020 The Landscape Ahead
Virtual XLH Week 2020 101 Captioned
Virtual XLH Week 2020 101 Captioned
Life with XLH 2DD 2020 captioned
Life with XLH 2DD 2020 captioned
Virtual XLH Week 2020 MH
Virtual XLH Week 2020 MH
Virtual XLH Week 2020 PT Research captioned
Virtual XLH Week 2020 PT Research captioned
Virtual XLH Week 2020 Dental Session captioned
Virtual XLH Week 2020 Dental Session captioned
Virtual XLH Week 2020 Nicole Boice captioned
Virtual XLH Week 2020 Nicole Boice captioned
Exercises for XLH. Part 1: Hip and knee
Exercises for XLH. Part 1: Hip and knee
Exercises for XLH. Part 2: Hip and knee
Exercises for XLH. Part 2: Hip and knee
Exercises for XLH. Part 3: Ankle and Foot Exercises
Exercises for XLH. Part 3: Ankle and Foot Exercises
Exercises for XLH. Part 4: Upper Limb Exercises
Exercises for XLH. Part 4: Upper Limb Exercises
XLH Awareness Month 2019 Video
XLH Awareness Month 2019 Video
Webinar: 2018 Crysvita Question & Answer Session
Webinar: 2018 Crysvita Question & Answer Session
XLH Day 2018 Welcome and Introduction
XLH Day 2018 Welcome and Introduction
XLH Day 2018: XLH Across the Lifespan
XLH Day 2018: XLH Across the Lifespan
XLH Day 2018: The Adult Patient Experience
XLH Day 2018: The Adult Patient Experience
The Symposium on Hypophosphatemia: Meeting Overview
The Symposium on Hypophosphatemia: Meeting Overview
The Symposium on Hypophosphatemia: Topic 1 Panel Comments
The Symposium on Hypophosphatemia: Topic 1 Panel Comments
The Symposium on Hypophosphatemia: Topic 1 Discussion
The Symposium on Hypophosphatemia: Topic 1 Discussion
The Symposium on Hypophosphatemia: Topic 2 Panel Comments
The Symposium on Hypophosphatemia: Topic 2 Panel Comments
The Symposium on Hypophosphatemia: Topic 2 Discussion
The Symposium on Hypophosphatemia: Topic 2 Discussion
The Symposium on Hypophosphatemia: Clinical Overview
The Symposium on Hypophosphatemia: Clinical Overview
The Symposium on Hypophosphatemia: FDA Remarks
The Symposium on Hypophosphatemia: FDA Remarks
The Symposium on Hypophosphatemia: Closing Statement and Whats Next
The Symposium on Hypophosphatemia: Closing Statement and Whats Next
Medical but not directly about XLH
Why is the liver a popular target for therapeutic genome editing? - Mammoth Biosciences
Why is the liver a popular target for therapeutic genome editing? - Mammoth Biosciences
www.painphysicianjournal.com
www.painphysicianjournal.com
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