Results 141 to 150 of about 937 (188)

Hypophosphatasia: presentation and response to asfotase alfa

Osteoporosis International, 2023
Hypophosphatasia (HPP) is a rare bone disease with limited scientific evidence on the tolerability and safety of its novel treatment, Asfotase Alfa (AA). We report 7 HPP patients' heterogenous presentations and the significant improvement in various clinical outcomes attained with AA shedding light on this highly effective and safe therapy ...
F. Alsarraf, D.S. Ali, K. Almonaei, H. Al-Alwani, A.A. Khan, M.L. Brandi   +5 more
openaire   +2 more sources

Dental outcomes for children receiving asfotase alfa for hypophosphatasia

Bone, 2021
Hypophosphatasia, a genetic disease impeding development of teeth and bones, is associated with premature exfoliation of primary teeth. Hypophosphatasia is caused by mutations in the ALPL gene, which encodes the tissue non-specific form of alkaline phosphatase.
Robert J, Schroth, Catherine, Long, Victor H K, Lee, Hamideh, Alai-Towfigh, Cheryl, Rockman-Greenberg   +4 more
openaire   +2 more sources

Status Epilepticus due to Asfotase Alfa Interruption in Perinatal Severe Hypophosphatasia

Pediatric Neurology, 2022
Hypophosphatasia (HPP), an inherited, metabolic disorder caused by loss-of-function mutations in the ALPL gene, affects not only bone and tooth mineralization but also central nervous system (CNS) function, resulting in vitamin B6/pyridoxine-responsive seizures. Asfotase alfa treatment mainly improves the skeletal manifestations of HPP.
Eri Ogawa, Kazuhiro Shimura, Hiroshi Yoshihashi, Sahoko Miyama   +3 more
openaire   +2 more sources

Asfotase Alfa: A Review in Paediatric-Onset Hypophosphatasia

Drugs, 2016
Hypophosphatasia (HPP) is a rare inheritable disease that results from loss-of-function mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Therapeutic options for treating the underlying pathophysiology of the disease have been lacking, with the mainstay of treatment being management of symptoms and supportive care ...
openaire   +2 more sources

Ectopic Ocular Surface Calcification in Patients With Hypophosphatasia Treated With Asfotase Alfa

Cornea, 2019
Purpose: To assess for ectopic ocular calcification in a series of patients with hypophosphatasia (HPP) treated with asfotase alfa, a recombinant tissue-nonspecific alkaline phosphatase. Methods: This is a retrospective analysis of subjects enrolled at Duke University Medical Center
Sidney M, Gospe, Cecilia, Santiago-Turla, Stephanie M, DeArmey, Thomas J, Cummings, Priya S, Kishnani, M Tariq, Bhatti   +5 more
openaire   +2 more sources

Asfotase alfa: Enzyme replacement for the treatment of bone disease in hypophosphatasia

Drugs of Today, 2016
Hypophosphatasia (HPP) is a rare disease caused by loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNAP, TNSALP) gene. HPP causes a multisystemic syndrome with a predominant bone phenotype. The clinical spectrum ranges from high lethality in early onset (
C, Hofmann, L, Seefried, F, Jakob
openaire   +2 more sources

Asfotase-alfa

Reactions Weekly, 2022
openaire   +2 more sources

Asfotase-alfa

Reactions Weekly, 2023
openaire   +2 more sources

Spurious testosterone laboratory results in a patient taking synthetic alkaline phosphatase (asfotase alfa)

Clinical Biochemistry, 2018
We report a case of discordant total and free testosterone values in a patient with hypogonadism and juvenile hypophosphatasia after he initiated treatment with asfotase alfa, recombinant tissue non-specific alkaline phosphatase.Total testosterone was evaluated using immunoassay pre and post initiation of therapy with asfotase alfa, and free ...
Alina G, Sofronescu, Meredith, Ross, Eric, Rush, Whitney, Goldner   +3 more
openaire   +2 more sources

Asfotase Alfa hypersensitivity: an outpatient 8-steps desensitization protocol

Immunologic Research, 2021
Scudu S., Ghisu A., Costanzo G., Barca M. P., Firinu D., Del Giacco S.   +5 more
openaire   +3 more sources