Improvements in Bone Disorganization and Pseudo-Fracture Healing in Hypophosphatasia Following Asfotase Alfa Therapy May Be Detectable by the ALIGNOGRAM Before Changes in Bone Radiography or Scintigraphy. [PDF]
Case Rep EndocrinolHypophosphatasia (HPP) is a rare genetic disorder characterized by bone fragility due to defective bone mineralization resulting in impaired alignment of bone components (bone disorganization). Current challenges in the management of HPP include accurately quantifying bone disease severity, monitoring disease progression, and assessing treatment ...
Zebaze R +5 more
europepmc +3 more sources
Mobility and Quality of Life in Adults With Paediatric-Onset Hypophosphatasia Treated With Asfotase Alfa: Results From UK Managed Access Agreement [PDF]
Advances in TherapyINTRODUCTION: Hypophosphatasia (HPP) is a rare disease caused by deficient tissue-non-specific alkaline phosphatase (ALP) activity. Asfotase alfa is a tissue-non-specific ALP enzyme-replacement therapy which was reimbursed in the UK under a Managed ...
Judith Bubbear +2 more
exaly +9 more sources
Mobility and Quality of Life in Children With Paediatric-Onset Hypophosphatasia Treated With Asfotase Alfa: Results From UK Managed Access Agreement [PDF]
Advances in TherapyIntroduction Hypophosphatasia (HPP) is a rare, inherited metabolic bone disease with a high degree of morbidity and mortality in children. Asfotase alfa is an enzyme replacement therapy for HPP reimbursed in the UK since 2017 under a Managed Access ...
Nicholas Bishop, Nick Shaw, Paul Arundel
exaly +4 more sources
Case Report: Suboptimal Response to Standard-Dose Asfotase Alfa in Perinatal Hypophosphatasia Indicates a Need for Individualized Dosing [PDF]
Frontiers in EndocrinologyHypophosphatasia (HPP) is a rare, inherited metabolic disorder due to a deficiency of tissue-nonspecific alkaline phosphatase, characterized by defective bone and teeth mineralization with consequent problems, including respiratory failure in severe ...
Danijela Petković Ramadža +2 more
exaly +4 more sources
Key Learnings From Clinical Research and Real-World Evidence on Asfotase Alfa Effectiveness in Hypophosphatasia: 10 Years Post-Approval [PDF]
Advances in TherapyFirst reported in 1948, hypophosphatasia (HPP) is a rare systemic disease caused by deficient activity of tissue-nonspecific alkaline phosphatase (ALP) enzyme.
Daniel Staub +2 more
exaly +3 more sources
Radiological Evaluation of Pseudofracture After the Administration of Asfotase Alfa in an Adult With Benign Prenatal Hypophosphatasia: A Case Report [PDF]
Bone Reports, 2022 Masaomi Nangaku +2 more
exaly +2 more sources
Asfotase Alfa Has a Limited Effect in Improving the Bowed Limbs in Perinatal Benign Hypophosphatasia: A Case Report [PDF]
Clinical Pediatric Endocrinology, 2021 Hiroshi Kitoh +2 more
exaly +2 more sources
Effect of Asfotase Alfa on Muscle Weakness in a Japanese Adult Patient of Hypophosphatasia With Low ALP Levels [PDF]
Internal Medicine, 2020 Yasuhisa Ohata +2 more
exaly +2 more sources
Pathways to enhancing prenatal diagnosis of skeletal dysplasias
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang +4 more
wiley +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Background Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome is a rare autosomal recessive mTORopathy caused by biallelic STE20‐related kinase adaptor alpha (STRADA) loss‐of‐function variants. Animal models demonstrate that in utero mechanistic target of rapamycin (mTOR) inhibition can prevent cortical dyslamination ...
Christian Macedonia +5 more
wiley +1 more source