Results 41 to 50 of about 714 (150)

Asfotase alfa has a limited effect in improving the bowed limbs in perinatal benign hypophosphatasia: A case report [PDF]

Clinical Pediatric Endocrinology, 2021
Masaki Matsushita, Kenichi Mishima, Tadashi Nagata   +2 more
exaly   +2 more sources

The Effect of Asfotase Alfa on Plasma and Urine Pyrophosphate Levels and Pseudofractures in a Patient With Adult-Onset Hypophosphatasia. [PDF]

JBMR Plus, 2023
Hypophosphatasia (HPP) is an inherited disease caused by variants of the ALPL gene encoding tissue‐nonspecific alkaline phosphatase. Adult‐onset HPP (adult HPP), known as a mild form of HPP, develops symptoms involving osteomalacia after the age of 18 ...
Hidaka N, Murata H, Tachikawa K, Osaki K, Sekiyama T, Kinoshita Y, Kato H, Hoshino Y, Kimura S, Sunouchi T, Watanabe S, Nangaku M, Makita N, Michigami T, Ito N.   +14 more
europepmc   +2 more sources

Impact of discontinuing 5 years of enzyme replacement treatment in a cohort of 6 adults with hypophosphatasia: A case series

Bone Reports, 2022
Asfotase alfa is a human recombinant enzyme replacement therapy for hypophosphatasia. We describe 6 adults who were treated with asfotase alfa for 61–68 months in a clinical trial (NCT01163149), after which asfotase alfa was discontinued for 15–48 months.
Cheryl Rockman-Greenberg, Robert Josse, Mira Francis, Aziz Mhanni   +3 more
doaj   +1 more source

Visualization of asfotase alfa-binding to sites of calcification in vivo

Bone Reports, 2020
Flavia Amadeu de Oliveira, Sonoko Narisawa, Massimo Bottini, José Luis Millán   +3 more
doaj   +2 more sources

Effect of Asfotase Alfa on Muscle Weakness in a Japanese Adult Patient of Hypophosphatasia with Low ALP Levels [PDF]

Internal Medicine, 2020
Yasuhisa Ohata, Kenro Imaeda
exaly   +2 more sources

Hypophosphatasia: from birth to adulthood [PDF]

Archives of Endocrinology and Metabolism, 2023
Hypophosphatasia (HPP) is an inherited disease caused by a low activity of tissue-nonspecific alkaline phosphatase, a hydrolase that removes phosphate groups from many molecules.
Fernanda Salles Reis, Marise Lazaretti-Castro   +1 more
doaj   +1 more source

Improvement in quality of life after asfotase alfa treatment in adults with pediatric-onset hypophosphatasia: data from 5 patient-reported outcome measures [PDF]

JBMR Plus
Eric T Rush, Chad Deal, Steven W InG
exaly   +2 more sources

Characterization of tracheobronchomalacia in infants with hypophosphatasia

Orphanet Journal of Rare Diseases, 2020
Background Perinatal and infantile hypophosphatasia (HPP) are associated with respiratory failure and respiratory complications. Effective management of such complications is of key clinical importance.
Raja Padidela, Robert Yates, Dan Benscoter, Gary McPhail, Elaine Chan, Jaya Nichani, M. Zulf Mughal, Charles Myer, Omendra Narayan, Claire Nissenbaum, Stuart Wilkinson, Shanggen Zhou, Howard M. Saal   +12 more
doaj   +1 more source

Pharmacodynamics of asfotase alfa in adults with pediatric-onset hypophosphatasia

Bone, 2021
Hypophosphatasia (HPP) is the rare, inherited, metabolic bone disease characterized by low activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) leading to excess extracellular inorganic pyrophosphate (PPi) and pyridoxal 5'-phosphate (PLP). Asfotase alfa is the human recombinant enzyme-replacement therapy that replaces deficient
Lothar, Seefried, Priya S, Kishnani, Scott, Moseley, Andrew E, Denker, Eric, Watsky, Michael P, Whyte, Kathryn M, Dahir   +6 more
openaire   +2 more sources

Modern Approaches to the Management of Children with Hypophosphatasia

Педиатрическая фармакология, 2023
Hypophosphatasia is rare genetic disease caused by tissue-nonspecific alkaline phosphatase deficiency due to the mutation in the ALPL gene. Disease can manifest in utero, in childhood or in adults depending on its form and severity. This article presents
Aleksander A. Baranov, Tatiana T. Batysheva, Olga V. Bykova, Nato D. Vashakmadze, Elena V. Vislobokova, Alisa V. Vitebskaya, Elena A. Vishneva, Victoria Yu. Voynova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Larisa P. Kisel'nikova, Mikhail M. Kostik, Sergey I. Kutsev, Tea V. Margieva, Leyla S. Namazova-Baranova, Svetlana V. Mikhaylova, Sergey V. Moiseev, Tatyana S. Nagornaya, Liliia R. Selimzyanova, Alla N. Semyachkina, Olga Ya. Smirnova, Marina V. Fedoseenko, Svetlana V. Pishchal'nikova   +22 more
doaj   +1 more source