Interference of Asfotase Alfa in Immunoassays Employing Alkaline Phosphatase Technology [PDF]
The Journal of Applied Laboratory Medicine, 2019 Abstract Background Asfotase alfa (STRENSIQ®, Alexion Pharmaceuticals, Inc.) is the only approved treatment for patients with pediatric-onset hypophosphatasia, a disease caused by a mutation in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Piec, Isabelle Danielle +2 more
openaire +6 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 +8 more sources
Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms [PDF]
Frontiers in Endocrinology, 2020 BackgroundHypophosphatasia is a rare bone disease characterized by impaired bone mineralization and low alkaline phosphatase activity. Here, we describe the course of bone-targeted enzyme replacement therapy with asfotase alpha for a female infant ...
Yasuko Fujisawa +5 more
doaj +2 more sources
A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by mutations in the ALPL gene, which encodes tissue nonspecific alkaline phosphatase.
Yohei Sugiyama +11 more
doaj +2 more sources
Hypophosphatasia: A Case of Two Patients With Spinal Cord Compression From Increase in Ligamentous Ossifications During Treatment [PDF]
JBMR Plus, 2021 Treatment with asfotase alfa has transformed the prognosis of hypophosphatasia in children and improves the bone and muscle signs in adults. The doses used in adults are the same as in children, whereas bone remodeling is different between them.
Michel Laroche +6 more
doaj +2 more sources
Asfotase alfa therapy for children with hypophosphatasia. [PDF]
JCI Insight, 2016 Background. Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Consequently, cell-surface deficiency of TNSALP phosphohydrolase activity leads to extracellular accumulation of inorganic pyrophosphate, a ...
Whyte MP +13 more
europepmc +8 more sources
Fracture Healing in Two Adult Patients With Hypophosphatasia After Asfotase Alfa Therapy [PDF]
JBMR Plus, 2018 ABSTRACTInfants and children with hypophosphatasia (HPP) treated with asfotase alfa show improvement in bone mineralization and motor function, but it is unclear whether the medication can affect fracture healing in adult HPP patients. We present the course of fracture healing in two adults with HPP on enzyme replacement. Case 1 is a 41‐year‐old female
Steven W InG
exaly +5 more sources
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
doaj +5 more sources
Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations [PDF]
Orphanet Journal of Rare Diseases, 2018 Background Hypophosphatasia (HPP) is a rare, heterogeneous disease caused by low tissue-nonspecific alkaline phosphatase activity and associated with a range of signs and symptoms, including bone mineralization defects, respiratory problems, seizures ...
Anjali B. Daniel +5 more
doaj +2 more sources