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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 Endocrinology
Hypophosphatasia (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, Simon Zhang, Cat Shore-Lorenti, Cherie Chiang, Frances Milat, Peter Ebeling   +5 more
doaj   +3 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

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, Taichi Kitaoka, Hiroyuki Ono, Shinichi Nakashima, Keiichi Ozono, Tsutomu Ogata   +5 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

Effectiveness and safety of asfotase alfa for people with hypophosphatasia: a plain language summary of three studies [PDF]

Journal of Comparative Effectiveness Research
What 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   +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, Taijiro Watanabe, Makiko Tajika, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomohiro Ebihara, Tomoko Tsuruoka, Tomoyuki Akiyama, Kei Murayama   +11 more
doaj   +2 more sources

Mobility and Quality of Life in Adults with Paediatric-Onset Hypophosphatasia Treated with Asfotase Alfa: Results from UK Managed Access Agreement. [PDF]

Adv Ther
INTRODUCTION: Hypophosphatasia (HPP) is a rare disease caused by deficient tissue-non-specific alkaline phosphatase (ALP) activity. Asfotase alfa is a tissue-non-specific ALP enzyme-replacement therapy which was reimbursed in the UK under a Managed ...
Moss KE, Keen R, Fang S, Zygouras A, Javaid MK, Geberhiwot T, Poole KES, Poole KES, Selby P, Walsh JS, Bubbear JS.   +10 more
europepmc   +7 more sources

Interference of Asfotase alfa in immunoassays employing alkaline phosphatase technology [PDF]

The Journal of Applied Laboratory Medicine, 2020
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.
Fraser, William Duncan, Piec, Isabelle Danielle, Tompkins, Beatrice   +2 more
core   +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, Dominik Rak, Anna Petryk, Lothar Seefried   +3 more
doaj   +2 more sources