Cargando…

SUN-529 Burden of Illness in Adults with Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry

Background: Hypophosphatasia (HPP) is a rare, systemic, metabolic disease caused by tissue-nonspecific alkaline phosphatase deficiency, characterized by poor skeletal mineralization, muscle weakness and ambulatory difficulties. Limited data are available on the burden of illness in adults with HPP....

Descripción completa

Detalles Bibliográficos
Autores principales:	Kishnani, Priya, Petryk, Anna, Hoegler, Wolfgang, Linglart, Agnès, Martos-Moreno, Gabriel, Ozono, Keiichi, Fang, Shona, Rockman-Greenberg, Cheryl, Seefried, Lothar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2019
Materias:	Bone and Mineral Metabolism
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552793/ http://dx.doi.org/10.1210/js.2019-SUN-529

Ejemplares similares

SUN-334 Real-World Clinical Profiles of Adults with Hypophosphatasia (HPP) from the Global HPP Registry
por: Dahir, Kathryn M, et al.
Publicado: (2020)

Growth and disease burden in children with hypophosphatasia
por: Högler, Wolfgang, et al.
Publicado: (2023)

Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry
por: Dahir, Kathryn M., et al.
Publicado: (2022)

Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry
por: Högler, Wolfgang, et al.
Publicado: (2019)

OR13-4 Safety Profile of Asfotase Alfa Treatment of Patients with Hypophosphatasia: A Pooled Analysis
por: Whyte, Michael, et al.
Publicado: (2019)

SUN-349 Characterizing Functional Performance in Adults with Hypophosphatasia
por: Dahir, Kathryn, et al.
Publicado: (2020)

Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry
por: Dahir, Kathryn M., et al.
Publicado: (2023)

SUN-LB089 Mild Form of Childhood Hypophosphatasia: A Novel Mutation
por: Benzrihen, María, et al.
Publicado: (2019)

A Rare Case of Perinatal Hypophosphatasia Treated With Asfotase Alfa
por: Srivastava, Priya S, et al.
Publicado: (2021)

The Prevalence and Burden of Hypophosphatasia in an Ambulatory Endocrinology Practice
por: Quinn, Hugh B, et al.
Publicado: (2021)

Hypophosphatasia Misdiagnosed as Osteoporosis in a Young Girl
por: Tsang, Tiffany, et al.
Publicado: (2021)

SUN-528 The Clinical Utility of Gene Sequencing in Hypophosphatasia: Lessons from Patients with Two Rare Variants
por: Tilden, Daniel, et al.
Publicado: (2019)

MON-361 Late Diagnosis in Adult Form of Hypophosphatasia
por: da Silva, Marina Sousa, et al.
Publicado: (2020)

Case of Juvenile Onset Hypophosphatasia Diagnosed in an Adult Patient
por: Nair, Nirmal
Publicado: (2021)

ODP592 Delay in Diagnosis of Adult with Familial Hypophosphatasia
por: Choe, Chlarles, et al.
Publicado: (2022)

SUN-LB092 The Role of the Modified Performance-Oriented Mobility Assessment Tool in the Evaluation of Gait in Adults with Hypophosphatasia
por: Dahir, Kathryn, et al.
Publicado: (2019)

MON-494 Infantile Hypophosphatasia Diagnosed in Adulthood: A Case Report
por: Alhumaidi, Hebah, et al.
Publicado: (2019)

MON-498 When to Sweat the Details: A Case of Adult Hypophosphatasia
por: Behari, Gauri, et al.
Publicado: (2019)

THU457 Variable Presentations Of Hypophosphatasia In Two Patients In The Outpatient Setting
por: Elmaaz, Ahmed, et al.
Publicado: (2023)

MON-497 Adult Onset Hypophosphatasia: Before and After Treatment with Asfotase Alfa
por: Magdaleno, Angela, et al.
Publicado: (2019)

MON-LB71 Adult Hypophosphatasia and Postmenopausal Osteoporosis: A Challenging Case
por: Abramof-Ness, Rosane, et al.
Publicado: (2020)

SAT-381 Adjunct Benefit of Aquatic Therapy in Juvenile Hypophosphatasia Initiated in an Adult
por: Khan, Abdul Mannan, et al.
Publicado: (2020)

THU460 A Case Series Of Hypophosphatasia: Presentation And Response To Asfotase Alfa
por: Alsarraf, Farah, et al.
Publicado: (2023)

FRI680 Atypical Femoral Fracture In Patients With Hypophosphatasia: A Systematic Review
por: Charoenngam, Nipith, et al.
Publicado: (2023)

THU459 Hypophosphatasia With Normal ALPL Gene Test; A Case Report
por: Alkwatli, Kenda, et al.
Publicado: (2023)

SUN-353 Physical and Cognitive Functioning Before and Six Months After Initiating Enzyme Replacement Therapy for an Adult with Hypophosphatasia: A Case Study
por: Dahir, Kathryn, et al.
Publicado: (2020)

MON-495 Hypophosphatasia: A Rare Cause of Osteoporosis in a Young Adult Male
por: Maier, Adrienne, et al.
Publicado: (2019)

RF30 | PSAT138 Romosozumab-aqqg in the Treatment of Osteoporosis in a Patient with Hypophosphatasia
por: Khanjee, Naveed, et al.
Publicado: (2022)

THU458 Demineralization Zebras: A Rare Case Of Hypophosphatasia In An Adult Presenting With Osteopenia
por: Ramchandani, Bhanvi Prakash, et al.
Publicado: (2023)

OR29-02 Energy Deficient Osteoblasts Inefficiently Mineralize Developing Bone In Sheep With Hypophosphatasia
por: Clarence Bertels, Joshua, et al.
Publicado: (2023)

MON-496 Bone Mineral Density improvement with Vitamin Dsupplementation in a Case Of Childhood Hypophosphatasia
por: Babar, Ghufran
Publicado: (2019)

ODP629 A Case of Juvenile Onset Hypophosphatasia Diagnosed In An Elderly Patient With Recurrent Fractures.
por: Matos, Moises, et al.
Publicado: (2022)

THU410 Retrospective Review Of Adults Patients With Suspected Or Confirmed Hypophosphatasia At The Penn Bone Center
por: Tran, Richie, et al.
Publicado: (2023)

THU461 Severe Hypercalcemia Associated With Perinatal Hypophosphatasia While Receiving Enzyme Replacement Therapy
por: Salama, Mostafa, et al.
Publicado: (2023)

MON-341 New Diagnosis of Hypophosphatasia in a 79-Year-Old Woman with Low Bone Density
por: Manavalan, Anjali, et al.
Publicado: (2020)

A Rare Presentation of Non-Traumatic Recurring Bone Fractures in Adult Patient With Juvenile Onset Hypophosphatasia
por: Elmedani, Sarah, et al.
Publicado: (2021)

RF30 | PSAT137 Low Level of Alkaline Phosphatase as a Clue to Noncompliance in Patient with Hypophosphatasia
por: Markovic, Nikolina, et al.
Publicado: (2022)

MON-493 A Unique Case of Severe Osteogenesis Imperfecta Due to a Novel Heterozygous Mutation in COL1A1 Gene with Overlapping Hypophosphatasia Phenotype
por: Bakhach, Marwan, et al.
Publicado: (2019)

Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management
por: Huggins, Erin, et al.
Publicado: (2020)

SUN-336 Obesity and Impaired Glucose Metabolism in Adult Patients with X-Linked Hypophosphatemia
por: Lecoq, Anne-Lise, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_ku2lae1n2oe1lotc20s8ldq5cs