Results 51 to 60 of about 9,342 (275)

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

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. [PDF]

, 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   +1 more source

Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry

Frontiers in Endocrinology, 2023
Introduction Hypophosphatasia (HPP) manifests in adults as fractures/pseudofractures, pain, muscle weakness, and other functional impairments. Better phenotypic disease characterization is needed to help recognize disability and treat patients with HPP ...
K. Dahir, P. Kishnani, G. Martos-Moreno, A. Linglart, A. Petryk, C. Rockman-Greenberg, S. Martel, K. Ozono, W. Högler, L. Seefried   +9 more
semanticscholar   +1 more source

Clinical Profiles of Children with Hypophosphatasia prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry

Hormone Research in Paediatrics, 2023
Introduction: The objective of this study was to better understand the clinical profiles of children with hypophosphatasia (HPP) prior to treatment with enzyme replacement therapy (ERT).
G. Martos-Moreno, C. Rockman-Greenberg, K. Ozono, A. Petryk, P. Kishnani, K. Dahir, L. Seefried, S. Fang, W. Högler, A. Linglart   +9 more
semanticscholar   +1 more source

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? – Call for a long-term follow-up of premature loss of primary teeth

Bone Reports, 2016
Introduction: Hypophosphatasia, a metabolic bone disease caused by a tissue-nonspecific alkaline phosphatase deficiency, leads to undermineralization of bone and/or teeth, impaired vitamin B6 metabolism, and a spectrum of disease presentation.
Mari Mori, Stephanie L. DeArmey, Thomas J. Weber, Priya S. Kishnani   +3 more
doaj   +1 more source

Functional involvement of PHOSPHO1 in matrix vesicle-mediated skeletal mineralization [PDF]

, 2007
UNLABELLED: PHOSPHO1 is a phosphatase highly expressed in bone. We studied its functional involvement in mineralization through the use of novel small molecule inhibitors.
Ali, Anderson, Anderson, Anderson, Anderson, Anderson, Anderson, Anderson, Baykov, Bernard, Cecil, Colin Farquharson, Dympna Harmey, Fallon, Fawzi, Garimella, Gomez, Harmey, Harmey, Hatch, Hessle, Ho, Houston, Houston, Houston, Hoylaerts, Hsu, Hunter, Johnson, Johnson, José Luis Millán, Kanehisa, Kvam, Lanzafame, Majeska, McLean, Meyer, Miao, Montessuit, Montessuit, Morris, Moss, Murshed, Nagaya, Narisawa, Nurnberg, Pelech, Rezende, Roberts, Roberts, Robison, Schinke, Scott Roberts, Sodek, Sonoko Narisawa, Stewart, Stewart, Suzuki, Terkeltaub, Valhmu, Wang, Wang, Waymire, Whyte, Wu, Wu, Wu, Zelinski   +67 more
core   +1 more source

Childhood hypophosphatasia: to treat or not to treat

Orphanet Journal of Rare Diseases, 2018
Background Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early lethality to disease limited to the
Eric T. Rush
doaj   +1 more source

Transition of young adults with metabolic bone diseases to adult care

Frontiers in Endocrinology, 2023
As more accurate diagnostic tools and targeted therapies become increasingly available for pediatric metabolic bone diseases, affected children have a better prognosis and significantly longer lifespan.
Jordan Ross, Michelle R. Bowden, Michelle R. Bowden, Christine Yu, Alicia Diaz-Thomas, Alicia Diaz-Thomas   +5 more
doaj   +1 more source

Hypophosphatasia: literature review and description of a clinical case of familial disease with molecular genetic verification of the diagnosis

Лечащий Врач, 2023
Hypophosphatasia is a rare hereditary disease characterized by a very diverse clinical manifestations that can make it difficult to make a timely diagnosis.
E. Yu. Belyashova, A. L. Frolenko, I. V. Zorin, A. P. Pakhomov   +3 more
doaj   +1 more source

Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review [PDF]

, 2018
Atypical femoral fractures (AFFs) are uncommon and have been associated particularly with long-term antiresorptive therapy, including bisphosphonates. Although the pathogenesis of AFFs is unknown, their identification in bisphosphonate-naïve individuals ...
Ebeling, P. (Peter), Laarschot, D.M. (Denise) van de, Milat, F. (Frances), Nguyen, Hanh H., Verkerk, A.J.H.M. (Annemieke), Zillikens, M.C. (Carola)   +5 more
core   +3 more sources