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Select item 105628411.

Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial

Ravi Savarirayan, Daniel G. Hoernschemeyer, Merete Ljungberg, Yuri A. Zarate, Carlos A. Bacino, Michael B. Bober, Janet M. Legare, Wolfgang Högler, Teresa Quattrin, M. Jennifer Abuzzahab, Paul L. Hofman, Klane K. White, Nina S. Ma, Dirk Schnabel, Sérgio B. Sousa, Meng Mao, Alden Smith, Mukta Chakraborty, Adebola Giwa, Bent Winding, Birgitte Volck, Aimee D. Shu, Ciara McDonnell

eClinicalMedicine. 2023 Nov; 65: 102258. Published online 2023 Oct 2. doi: 10.1016/j.eclinm.2023.102258

PMCID:: PMC10562841

Article PubReader PDF–440K Cite

Select item 105572352.

Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures

Jong Seok Lee, Youngbo Shim, Tae-Joon Cho, Seung-Ki Kim, Jung Min Ko, Ji Hoon Phi

Orphanet J Rare Dis. 2023; 18: 311. Published online 2023 Oct 5. doi: 10.1186/s13023-023-02929-6

PMCID:: PMC10557235

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Select item 104275953.

Burden and Treatment of Achondroplasia: A Systematic Literature Review

Molly C. Murton, Emma L. A. Drane, Danielle M. Goff-Leggett, Renée Shediac, Jamie O’Hara, Melita Irving, Thomas J. Butt

Adv Ther. 2023; 40(9): 3639–3680. Published online 2023 Jun 29. doi: 10.1007/s12325-023-02549-3

PMCID:: PMC10427595

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Select item 103951664.

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

Ravi Savarirayan, Melita Irving, Wirginia Maixner, Dominic Thompson, Amaka C Offiah, Daniel JA Connolly, Ashok Raghavan, James Powell, Marcin Kronhardt, George Jeha, Sajda Ghani, Elena Fisheleva, Jonathan RS Day

Sci Prog. 2021 Jan-Mar; 104(1): 00368504211003782. Published online 2021 Mar 25. doi: 10.1177/00368504211003782

PMCID:: PMC10395166

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Select item 103756945.

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Heike Hoyer-Kuhn, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa

Orphanet J Rare Dis. 2023; 18: 219. Published online 2023 Jul 27. doi: 10.1186/s13023-023-02795-2

PMCID:: PMC10375694

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Select item 103737536.

Craniofacial and Dental Manifestations in Pediatric Patients with Achondroplasia: A Case Report and Clinical View

Amal Almutiry, Fares Alotaibi, Bashayer Almutiry, Mannaa K Aldowsari, Maha Alotaibi, Aboubekri Boucelham

Int J Clin Pediatr Dent. 2023 Mar-Apr; 16(2): 409–415. doi: 10.5005/jp-journals-10005-2589

PMCID:: PMC10373753

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Select item 103673277.

Higher rates of non-skeletal complications and greater healthcare needs in achondroplasia compared to the general UK population: a matched cohort study using the CPRD database

Jeanne M. Pimenta, Melita Irving, Moira Cheung, Louise Mazzeo, Sarah Landis, Swati Mukherjee

Orphanet J Rare Dis. 2023; 18: 211. Published online 2023 Jul 25. doi: 10.1186/s13023-023-02811-5

PMCID:: PMC10367327

Article PubReader PDF–896K Cite

Select item 103326028.

Phase 1b study on the repurposing of meclizine hydrochloride for children with achondroplasia

Masaki Matsushita, Hiroshi Kitoh, Kenichi Mishima, Yasunari Kamiya, Daisaku Kato, Genta Takemoto, Kenta Sawamura, Shinji Ueno, Nakai Yasuhiro, Kazuki Nishida, Shiro Imagama

PLoS One. 2023; 18(7): e0283425. Published online 2023 Jul 10. doi: 10.1371/journal.pone.0283425

PMCID:: PMC10332602

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Select item 103158389.

The management of achondroplasia in Italy: results from a Delphi panel based on real-world experience

Mohamad Maghnie, Paolo Bruzzi, Giorgio Casilli, Dario Lidonnici, Gioacchino Scarano

Front Pediatr. 2023; 11: 1209994. Published online 2023 Jun 19. doi: 10.3389/fped.2023.1209994

PMCID:: PMC10315838

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Select item 1029437210.

Real-world evidence in achondroplasia: considerations for a standardized data set

Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving

Orphanet J Rare Dis. 2023; 18: 166. Published online 2023 Jun 26. doi: 10.1186/s13023-023-02755-w

PMCID:: PMC10294372

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Select item 1024637111.

Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

Nickolas J. Nahm, W. G. Stuart Mackenzie, William G. Mackenzie, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria Elena Serna, Cory J. Smid, Julie Hoover-Fong, Michael B. Bober

Orphanet J Rare Dis. 2023; 18: 139. Published online 2023 Jun 6. doi: 10.1186/s13023-023-02738-x

PMCID:: PMC10246371

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Select item 1012994712.

Parents’ Experience of Administering Vosoritide: A Daily Injectable for Children with Achondroplasia

Sinead NiMhurchadha, Karen Butler, Rob Argent, Katja Palm, Genevieve Baujat, Valerie Cormier-Daire, Klaus Mohnike

Adv Ther. 2023; 40(5): 2457–2470. Published online 2023 Apr 5. doi: 10.1007/s12325-023-02496-z

PMCID:: PMC10129947

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Select item 1011438013.

Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients

Anne Morice, Maxime Taverne, Sophie Eché, Lucie Griffon, Brigitte Fauroux, Nicolas Leboulanger, Vincent Couloigner, Geneviève Baujat, Valérie Cormier-Daire, Arnaud Picard, Laurence Legeai-Mallet, Natacha Kadlub, Roman Hossein Khonsari

Orphanet J Rare Dis. 2023; 18: 88. Published online 2023 Apr 18. doi: 10.1186/s13023-023-02664-y

PMCID:: PMC10114380

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Select item 1010710814.

Australian guidelines for the management of children with achondroplasia

Louise J Tofts, Jennifer A Armstrong, Stephanie Broley, Theresa Carroll, Penelope J Ireland, Minna Koo, Katherine Langdon, Lesley McGregor, Fiona McKenzie, Divyesh Mehta, Ravi Savarirayan, Tracy Tate, Alison Wesley, Andreas Zankl, Maree Jenner, Marta Eyles, Verity Pacey

J Paediatr Child Health. 2023 Feb; 59(2): 229–241. Published online 2023 Jan 11. doi: 10.1111/jpc.16290

PMCID:: PMC10107108

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Select item 1001581015.

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike

Orphanet J Rare Dis. 2023; 18: 56. Published online 2023 Mar 15. doi: 10.1186/s13023-023-02652-2

PMCID:: PMC10015810

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Select item 997076316.

Ilizarov技术治疗软骨发育不全下肢畸形早期临床研究

学建郑, 泗河秦, 磊石, 保逢郭, 俊赵, 海阳殷

Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2023 Feb; 37(2): 157–161. Chinese. doi: 10.7507/1002-1892.202210072

PMCID:: PMC9970763

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Select item 995163517.

A Rare Case of Achondroplasia With Bilateral Developmental Cataract

Rasika Bagewadi, Pravin Tidake, Sandhya Jeria, Mayur B Wanjari

Cureus. 2023 Jan; 15(1): e34191. Published online 2023 Jan 25. doi: 10.7759/cureus.34191

PMCID:: PMC9951635

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Select item 994572018.

Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia

Svein O. Fredwall, Jennifer Linge, Olga de Vries, Olof Dahlqvist Leinhard, Heidi Beate Eggesbø, Harald Weedon-Fekjær, Mikael Petersson, Per Widholm, Grethe Månum, Ravi Savarirayan

Orphanet J Rare Dis. 2023; 18: 35. Published online 2023 Feb 22. doi: 10.1186/s13023-023-02641-5

PMCID:: PMC9945720

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Select item 985895519.

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review

Elisabetta Sforza, Gaia Margiotta, Valentina Giorgio, Domenico Limongelli, Francesco Proli, Eliza Maria Kuczynska, Chiara Leoni, Cristina De Rose, Valentina Trevisan, Domenico Marco Romeo, Rosalinda Calandrelli, Eugenio De Corso, Luca Massimi, Osvaldo Palmacci, Donato Rigante, Giuseppe Zampino, Roberta Onesimo

Genes (Basel) 2023 Jan; 14(1): 199. Published online 2023 Jan 12. doi: 10.3390/genes14010199

PMCID:: PMC9858955

Article PubReader PDF–483K Cite

Select item 984875620.

Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India

Manisha Goyal, Ashok Gupta, Anu Bhandari, Mohammed Faruq

J Pediatr Genet. 2023 Mar; 12(1): 42–47. Published online 2021 Jul 7. doi: 10.1055/s-0041-1731684

PMCID:: PMC9848756

Article PubReader PDF–580K Cite

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