Results 51 to 60 of about 714 (150)

Dental manifestations of hypophosphatasia in children and the effects of enzyme replacement therapy on dental status: A series of clinical cases

Clinical Case Reports, 2020
The most frequent dental signs of hypophosphatasia in children are premature loss of primary teeth, decrease in height of alveolar bone, and malocclusions.
Larisa Kiselnikova, Elena Vislobokova, Victoria Voinova   +2 more
doaj   +1 more source

Clinical application experience of asfotase alfa for a young patient with childhood hypophosphatasia

Остеопороз и остеопатии, 2019
Hypophosphatasia (HPP) is a rare hereditary metabolic disease characterized by defective bone and dental mineralization, systemic complications that lead to disability of patients.
Nataliya Y. Kalinchenko, Olga O. Golounina, Tatiana A. Grebennikova, Galina A. Melnichenko, Anatoly N. Tiulpakov, Zhanna E. Belaya   +5 more
doaj   +1 more source

Emerging therapies for the treatment of rare pediatric bone disorders

Frontiers in Pediatrics, 2022
In recent years, new therapies for the treatment of rare pediatric bone disorders have emerged, guided by an increasing understanding of the genetic and molecular etiology of these diseases.
Kathryn M. Thrailkill, Evangelia Kalaitzoglou, John L. Fowlkes   +2 more
doaj   +1 more source

Dual X-ray absorptiometry has limited utility in detecting bone pathology in children with hypophosphatasia: A pooled post hoc analysis of asfotase alfa clinical trial data [PDF]

, 2020
Asfotase alfa is an enzyme replacement therapy approved for treatment of patients with pediatric-onset hypophosphatasia (HPP), a rare, inherited, systemic disease causing impaired skeletal mineralization, short stature, and reduced physical function in ...
Simmons, Jill H., Martos Moreno, Gabriel Ángel, Petryk, Anna, Rush, Eric T., Zhou, Shanggen   +4 more
core   +1 more source

Asfotase alfa restores PLP-dependent GABA, cystathionine, and amino acid metabolism in a mouse model of hypophosphatasia

Neuroscience Research
This study assessed whether asfotase alfa treatment in Akp2-/- mice (a model of hypophosphatasia) reversibly normalizes GABA and cystathionine in brain tissue to concentrations in wild-type mice.
Kathryn N. Phoenix, Andre Marozsan, Susan Liu-Chen, Lizhong Zhang, Amit Mogha, Yan Wong, Catherine A. Brownstein, Raja Padidela   +7 more
doaj   +1 more source

Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study. [PDF]

J Clin Endocrinol Metab, 2019
CONTEXT: Long-term data on enzyme replacement treatment of hypophosphatasia (HPP) are limited.OBJECTIVE: To evaluate efficacy and safety of asfotase alfa in patients aged ≤5 years with HPP followed for up to 6 years.DESIGN: Phase 2 open-label study (July
Hofmann CE, Harmatz P, Vockley J, Högler W, Nakayama H, Bishop N, Martos-Moreno GÁ, Moseley S, Fujita KP, Liese J, Rockman-Greenberg C, ENB-010-10 Study Group.   +11 more
europepmc   +2 more sources

Impact of pediatric hypophosphatasia on behavioral health and quality of life

Orphanet Journal of Rare Diseases, 2021
Background Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the ALPL gene encoding tissue nonspecific alkaline phosphatase.
Elizabeth I. Pierpont, Jill H. Simmons, Katherine J. Spurlock, Ryan Shanley, Kyriakie M. Sarafoglou   +4 more
doaj   +1 more source

Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia

, 2019
Hypophosphatasia (HPP) features low tissue-nonspecific alkaline phosphatase (TNSALP) isoenzyme activity resulting in extracellular accumulation of its substrates including pyridoxal 5\u27-phosphate (PLP), the principal circulating form of vitamin B6, and
Watsky, Eric, Bhatti, M Tariq, Kishnani, Priya S, Rockman-Greenberg, Cheryl, Moseley, Scott, Rauch, Frank, Denker, Andrew E, Whyte, Michael P   +7 more
core   +1 more source

Additional file 1 of A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia

, 2022
Additional file 1. Video record of patient 2 demonstrating the patient’s inability to walk and the subsequent improvement in pain and walking ability after asfotase alfa (AA) initiation.
Taijiro Watanabe (12129659), Tetsuro Matsuhashi (9721359), Takuya Fushimi (843970), Masaru Shimura (843971), Tomohiro Ebihara (12129671), Tomoyuki Akiyama (318638), Tomoko Tsuruoka (12129674), Ayako Matsunaga (12129668), Kei Murayama (12129677), Makiko Tajika (12129662), Keiko Ichimoto (12129665), Yohei Sugiyama (12129656)   +11 more
core   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source