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 Reports in EndocrinologyHypophosphatasia (HPP) is a rare genetic disorder characterized by bone fragility due to defective bone mineralization resulting in impaired alignment of bone components (bone disorganization).
Roger Zebaze +5 more
doaj +4 more sources
Effectiveness and safety of asfotase alfa for people with hypophosphatasia: a plain language summary of three studies [PDF]
Journal of Comparative Effectiveness ResearchWhat is this summary about? Hypophosphatasia (HPP for short) is a rare inherited condition that can present at any stage of life, with symptoms typically being more severe in cases that manifest earlier, such as during infancy or childhood.
Fatma Al Jasmi, Zhanna Belay
doaj +3 more sources
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa [PDF]
Molecular Genetics and Metabolism, 2017 Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by autosomal recessive mutations or a single dominant-negative mutation in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). The disease is associated with a broad range of signs, symptoms, and complications, including impaired skeletal mineralization ...
Priya S Kishnani +2 more
exaly +9 more sources
Pathophysiology of hypophosphatasia and the potential role of asfotase alfa
Therapeutics and Clinical Risk Management, 2016 Hideo Orimo Division of Metabolism and Nutrition, Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan Abstract: Hypophosphatasia (HPP) is an inherited systemic bone disease that is characterized by bone ...
Orimo H
doaj +6 more sources
Efficacy of asfotase alfa in a patient with adult-onset hypophosphatasia without obvious bone lesions: a case report with review of literature [PDF]
Endocrine JournalThe use of asfotase alfa, a bone-targeted recombinant alkaline phosphatase (ALP) enzyme, for the treatment of adult-onset hypophosphatasia (HPP) remains controversial, particularly in patients without evident bone abnormalities.
Seiji Nishikage +11 more
doaj +3 more sources
Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry [PDF]
Orphanet Journal of Rare DiseasesBackground Hypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase. Many adults with HPP have a high burden of disease, experiencing chronic pain, fatigue, limited mobility, and dental ...
Priya S. Kishnani +10 more
doaj +3 more sources
Asfotase Alfa Treatment in a 2-year-old Girl with Childhood Hypophosphatasia
Journal of Pediatric Research, 2022 Childhood hypophosphatasia (HPP) presents with bowing of the limbs, poor mobility, chronic pain, short stature, fractures, and motor impairment. Enzyme replacement therapy (ERT) provides improved pulmonary and physical function in life-threatening ...
Gönül Çatlı +4 more
doaj +6 more sources
Physical Function and Health‐Related Quality of Life in Adults Treated With Asfotase Alfa for Pediatric‐Onset Hypophosphatasia [PDF]
JBMR Plus, 2020 Hypophosphatasia (HPP) is a rare, inherited, metabolic disease characterized by tissue‐nonspecific alkaline phosphatase deficiency resulting in musculoskeletal and systemic clinical manifestations.
Franca Genest +3 more
doaj +3 more sources
Effects of asfotase alfa on fracture healing of adult patient with hypophosphatasia and literature review [PDF]
Orphanet Journal of Rare DiseasesObjective Hypophosphatasia (HPP) is a rare inherited disorder caused by ALPL gene mutations, with fracture nonunion being a serious complication. This study investigated the effects of teriparatide and asfotase alfa (AA) on femoral fracture healing of an
Songqi Wang +8 more
doaj +3 more sources
ADULT-ONSET HYPOPHOSPHATASIA: BEFORE AND AFTER TREATMENT WITH ASFOTASE ALFA. [PDF]
AACE Clin Case Rep, 2019 To review the diagnosis and clinical course of a woman with hypophosphatasia who is being treated with newly approved enzyme replacement therapy, asfotase alfa.Clinical and laboratory data are presented.This is a unique report of a woman with debilitating adult-onset hypophosphatasia who was successfully diagnosed with low alkaline phosphatase (ALP ...
Magdaleno AL +4 more
europepmc +7 more sources