Pathophysiology of hypophosphatasia and the potential role of asfotase alfa [PDF]
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
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Effect of asfotase alfa in the treatment of hypophosphatasia- A systematic review
Journal of Pharmacy and Bioallied Sciences, 2023 Hypophosphatasia (HPP) is a life-threatening disease that occurs due to the mutation of the TNSALP (Tissue nonspecific isoenzyme of alkaline phosphatase) encoding gene. There is no approved treatment for Hypophosphatasia.
N Jaswanthi +7 more
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Altered Thyroid Function Tests Observed in Hypophosphatasia Patients Treated with Asfotase Alfa [PDF]
International Journal of Endocrinology, 2021 Background. Asfotase alfa is the only approved treatment that can normalize mineralization in patients with hypophosphatasia (HPP). Its interference in alkaline phosphatase (ALP) dependent immunoassays has been reported. Objective.
Hajime Kato +6 more
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Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia [PDF]
JIMD Reports, 2021 Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of alkaline phosphatase, causing defective mineralization of bones and teeth.
Olivia Sarah Strandbech +2 more
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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 +7 more
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Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials [PDF]
Molecular Genetics and Metabolism Reports, 2020 Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene.
Hitomi Nishizawa +8 more
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Radiological evaluation of pseudofracture after the administration of asfotase alfa in an adult with benign prenatal hypophosphatasia: A case report [PDF]
Bone Reports, 2022 Hypophosphatasia (HPP) is a congenital disorder with decreased activity of tissue-nonspecific alkaline phosphatase. Asfotase alfa is the only treatment approved for HPP and improves the impairment of bone mineralization. Although several previous studies
Hajime Kato +6 more
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Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia [PDF]
Molecular Genetics and Metabolism Reports, 2020 Hearing impairment is a neurological symptom of hypophosphatasia (HPP), which leads to a reduced quality of life. However, the pathomechanism of hearing impairment and the effects of asfotase alfa enzyme replacement therapy on hearing function in HPP ...
Rie Chida-Naomiya +4 more
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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
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A two-year follow-up of asfotase alfa replacement in a patient with hypophosphatasia: clinical, biochemical, and radiological evaluation [PDF]
Archives of Endocrinology and Metabolism, 2020 SUMMARY Hypophosphatasia (HPP) is a rare disease with a high mortality rate in its severe forms. It is caused by mutations within the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme responsible for bone mineralization.
Fernanda Salles Reis +3 more
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