Results 1 to 10 of about 534 (161)
Consensus Guidelines for the Use of Vosoritide in Children With Achondroplasia in Australia
ChildrenBackground: Achondroplasia, the most prevalent skeletal dysplasia, stems from a functional mutation in the fibroblast growth factor receptor 3 gene, leading to growth impairment.
Katherine Langdon +2 more
exaly +10 more sources
Three-Dimensional Craniofacial Imaging in Children With Achondroplasia Treated With Vosoritide [PDF]
Genetics in Medicine OpenPurpose: Achondroplasia is the most common form of disproportionate short-stature skeletal dysplasia. Constitutively activated FGFR3 signaling disrupts endochondral ossification, affecting long bone growth, as well as the craniofacial skeleton and skull ...
Trevor Coward +2 more
exaly +7 more sources
Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgery [PDF]
Science Progress, 2021 Achondroplasia causes narrowing of the foramen magnum and the spinal canal leading to increased mortality due to cervicomedullary compression in infants and significant morbidity due to spinal stenosis later in adulthood.
Ravi Savarirayan +12 more
doaj +2 more sources
Exploring adverse events associated with vosoritide monotherapy: Insights from the FDA Adverse Event Reporting System. [PDF]
PLoS ONEBackgroundDwarfism, a condition characterized by short stature, has been the focus of therapeutic advancements with the emergence of novel peptide drugs.
Xiaomin Li +5 more
doaj +3 more sources
Orphanet Journal of Rare Diseases, 2022 Background Achondroplasia is associated with disproportionate short stature and significant and potentially severe medical complications. Vosoritide is the first medicine to treat the underlying cause of achondroplasia and data from phase 3 and phase 2 ...
Ravi Savarirayan +13 more
doaj +2 more sources
Scientific Reports, 2021 Evidence from genetic disorders of CNP signalling suggests that plasma concentrations of CNP are subject to feedback regulation. In subjects with Achondroplasia (Ach), CNP intracellular activity is suppressed and plasma concentrations are raised but the ...
Timothy C. R. Prickett +10 more
doaj +2 more sources
Spinal Stenosis and Thoracolumbar Kyphosis in Achondroplasia
罕见病研究, 2023 Achondroplasia (ACH) is a rare autosomal-dominant genetic disease resulting from a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene. It is characterized by asymmetric short stature.
LIU Fuze, WANG Hai
doaj +2 more sources
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 +2 more
doaj +1 more source
Journal of Biochemical and Clinical Genetics, 2022 Not available [JBCGenetics 2022; 5(2.000): 059-060]
Amsal Qureshi, Areesha Moiz Alvi
doaj +1 more source
Гений oртопедии, 2021 Introduction Achondroplasia (ACP) is a common skeletal dysplasia. Vozoritide is the first drug that has an effect on the pathogenesis of impaired enchondral growth in achondroplasia.
Dmitry A. Popkov +2 more
doaj +1 more source