Results 81 to 90 of about 534 (161)

Behandling av akondroplasi är på väg – kan ge nya möjligheter : [New treatments for achondroplasia may be efficacious in other forms of short stature]

, 2021
Achondroplasia is the most common form of monogenic skeletal dysplasia and is caused by activating mutations in fibroblast growth factor receptor 3 (FGFR3) resulting in exaggerated MAPK signaling in the growth cartilage chondrocytes and thus reduced ...
Nilsson, Ola,
core  

P339: Vosoritide therapy in patients with achondroplasia: Early experience and practical considerations for clinical practice

Genetics in Medicine Open, 2023
Oliver Semler, Valérie Cormier-Daire, Ekkehart Lausch, Michael Bober, Ricki Carroll, Sérgio Sousa, David Deyle, Maha Faden, Gabriele Hartmann, Aaron Huser, Janet Legare, Klaus Mohnike, Tilman Rohrer, Frank Rutsch, Pamela Smith, Andre Travessa, Angela Verado, Klane White, William Wilcox, Julie Hoover-Fong   +19 more
doaj   +1 more source

Real‐World Evidence on the Effectiveness and Safety of Vosoritide in Latin American Patients With Achondroplasia ( EVOLAC )

Achondroplasia is a skeletal dysplasia associated with severe short stature and multisystem complications due to a gain‐of‐function pathogenic variant in the FGFR3 gene.
Pablo Rosselli, Julieta De Victor, Rosario Gueçaimburu, Mónica Fernández, Norma Elena De León Ojeda, Eduardo D. Gil, Nancy Unanue, Florencia Pabletich, Silvia Maradei, Rocío Rabosto Moleón, Beatriz E. De la Fuente‐Cortez, Norma C. Serrano, María Dora Lacarrubba‐Flores, Gisel Gordillo‐González, Carolina A. Dellamea   +14 more
core   +1 more source

P338: Objectives and design of the Acorn Study: A non-interventional study evaluating long-term safety in achondroplasia patients treated with vosoritide

Genetics in Medicine Open, 2023
Jeanne Pimenta, Shelda Cohen, Swati Mukherjee, Fiona Fettes, Kala Jayaram, Ekkehart Lausch   +5 more
doaj   +1 more source

P194: Persistence of growth promoting effects in children with achondroplasia over seven years: Update from phase II extension study with vosoritide*

Genetics in Medicine Open, 2023
Julie Hoover-Fong, Melita Irving, Carlos Bacino, Joel Charrow, Valérie Cormier-Daire, Lynda Polgreen, Paul Harmatz, Alice Huntsman-Labed, Elena Fisheleva, Ian Sabir, Jonathan Day, John Phillips, Ravi Savarirayan   +12 more
doaj   +1 more source

A Case of Inadvertent Overdose of Vosoritide Injection in a Three-Month-Old Infant With Achondroplasia. [PDF]

Cureus
Satake S, Oda Y.
europepmc   +1 more source

Early closure of cranial base synchondroses in infants with Vosoritide-treated achondroplasia. [PDF]

Clin Pediatr Endocrinol
Aoki M, Nagano N, Aoki R, Sumi K, Morioka I.   +4 more
europepmc   +1 more source

P193: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 3.5 years: Update from phase 3 extension study*

Genetics in Medicine Open, 2023
Julie Hoover-Fong, Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos Bacino, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael Bober, Lynda Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Daniel Hoernschemeyer, Keiichi Ozono, Yasemin Alanay, Paul Arundel, Shoji Kagami, Natsuo Yasui, Klane White, Howard Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Donald Basel, Dania Porco, Kala Jayaram, Elena Fisheleva, Sue Lawrinson, Jonathan Day   +30 more
doaj   +1 more source

Navepegritide in children with achondroplasia. [PDF]

Transl Pediatr
Semler O, Hoyer-Kuhn H.
europepmc   +1 more source

Achondroplasia management in the era of targeted therapies: a meta-analysis of C-type natriuretic peptide analogs. [PDF]

J Endocr Soc
Kamrul-Hasan ABM, Uday S, Nagendra L, Dutta D, Bhattacharya S, Pappachan JM, Ashraf AP.   +6 more
europepmc   +1 more source