Results 1 to 10 of about 909 (152)

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, Naoko Hidaka, Minae Koga, Yuka Kinoshita, Masaomi Nangaku, Noriko Makita, Nobuaki Ito   +6 more
doaj   +5 more sources

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, R Sindhu, P Nimmy, D Prabu, M RajMohan, V V Bharathwaj, Dinesh Dhamodhar, S Sathiyapriya   +7 more
doaj   +4 more sources

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, Allan Lund, Elsebet Ostergaard   +2 more
doaj   +7 more sources

Case Report: Suboptimal response to standard-dose asfotase alfa in perinatal hypophosphatasia indicates a need for individualized dosing [PDF]

Frontiers in Endocrinology
Hypophosphatasia (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, Danijela Petković Ramadža, Tamara Žigman, Tamara Žigman, Mislav Čavka, Mislav Čavka, Ivo Barić, Ivo Barić   +7 more
doaj   +5 more sources

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
doaj   +6 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).
Whyte MP, Madson KL, Phillips D, Reeves AL, McAlister WH, Yakimoski A, Mack KE, Hamilton K, Kagan K, Fujita KP, Thompson DD, Moseley S, Odrljin T, Rockman-Greenberg C.   +13 more
europepmc   +8 more sources

Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia [PDF]

Italian Journal of Pediatrics
Background Hypophosphatasia (HPP) is a rare inherited disorder characterized by a deficiency of tissue-non-specific alkaline phosphatase (TNSALP) due to loss-of-function variants of the ALPL gene.
Debora Mariarita d’Angelo, Federico Lauriola, Luisa Silvestrini, Luigia Cinque, Marco Castori, Giulia Di Donato, Armando Di Ludovico, Saverio La Bella, Francesco Chiarelli, Cosimo Giannini, Luciana Breda   +10 more
doaj   +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, Yoshihiko Sato, Masumi Ishikawa, Yuko Arakawa, Mari Iijima, Tomoyuki Akiyama, Kyoko Takano, Atsushi Watanabe, Tomoki Kosho   +8 more
doaj   +5 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
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, Naoko Hidaka, Minae Koga, Yuka Kinoshita, Noriko Makita, Masaomi Nangaku, Nobuaki Ito   +6 more
doaj   +2 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
Agnès Linglart, ATS Statement, Baumgartner-Sigl, Bayley, Beck, Berkseth, Bianchi, Bishop, Bloch-Zupan, Brittain, Cahill, Camacho, Caswell, Centers for Disease Control and Prevention, Colantonio, Collmann, Craig F. Munns, Cundy, Daltroy, Deitz, Eberle, Eric T. Rush, Fedde, Fedde, Fleisch, Folio, Foster, Fraser, Goff, Guralnik, Hampole, Hofmann, Howard M. Saal, Hudson-Barr, International Society for Clinical Densitometry, Kathryn Dahir, Keiichi Ozono, Kozlowski, Laroche, Lawrence, Lessell, Linglart, Lothar Seefried, Lyders, Maman, Marcus, Mark E. Nunes, McCaffery, McDonald, McKiernan, Mori, Mornet, Mornet, Mornet, Mornet, Mornet, Mornet, Nick Bishop, Paul Arundel, Paul Harmatz, Pauli, Piper, Priya S. Kishnani, Reibel, Rockman-Greenberg, Russell, Russell, Russell, Scott, Seshia, Silva, Simmons, Singh, Stoll, Strensiq [Health Canada], Sutton, Taillandier, Taketani, Taketani, Taketani, van Reenen, Varni, Varni, Wang, Ware, Weber, Weiss, Wenkert, Whyte, Whyte, Whyte, Whyte, Whyte, Whyte, Whyte, Whyte, Whyte, William Fraser, Wong   +98 more
core   +6 more sources