Works matching Achondroplasia

Results: 1056
    1

    Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03621-7
    By:
    • Guillen-Navarro, Encarna;
    • AlSayed, Moeenaldeen;
    • Alves, Inês;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Cormier-Daire, Valérie;
    • Fauroux, Brigitte;
    • Fredwall, Svein;
    • Irving, Melita;
    • Kunkel, Philip;
    • Lampe, Christian;
    • Lausch, Ekkehart;
    • Maghnie, Mohamad;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Pejin, Zagorka;
    • Sessa, Marco;
    • Sousa, Sérgio B.
    Publication type:
    Article
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    European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02795-2
    By:
    • Irving, Melita;
    • AlSayed, Moeenaldeen;
    • Arundel, Paul;
    • Baujat, Geneviève;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Cormier-Daire, Valérie;
    • Fredwall, Svein;
    • Guillen-Navarro, Encarna;
    • Hoyer-Kuhn, Heike;
    • Kunkel, Philip;
    • Lampe, Christian;
    • Maghnie, Mohamad;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Sousa, Sérgio B.
    Publication type:
    Article
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    Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.

    Published in:
    2021
    By:
    • Hoover-Fong, Julie E.;
    • Schulze, Kerry J.;
    • Alade, Adekemi Y.;
    • Bober, Michael B.;
    • Gough, Ethan;
    • Hashmi, S. Shahrukh;
    • Hecht, Jacqueline T.;
    • Legare, Janet M.;
    • Little, Mary Ellen;
    • Modaff, Peggy;
    • Pauli, Richard M.;
    • Rodriguez-Buritica, David F.;
    • Serna, Maria E.;
    • Smid, Cory;
    • Liu, Chengxin;
    • McGready, John
    Publication type:
    journal article
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    Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.

    Published in:
    Calcified Tissue International, 2022, v. 111, n. 1, p. 66, doi. 10.1007/s00223-022-00966-0
    By:
    • Carroll, Ricki S.;
    • Olney, Robert C.;
    • Duker, Angela L.;
    • Coghlan, Ryan F.;
    • Mackenzie, William G.;
    • Ditro, Colleen P.;
    • Brown, Cassondra J.;
    • O'Connell, David A.;
    • Horton, William A.;
    • Johnstone, Brian;
    • Espiner, Eric A.;
    • Prickett, Timothy C. R.;
    • Bober, Michael B.
    Publication type:
    Article
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    What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.

    Published in:
    Genes, 2023, v. 14, n. 1, p. 199, doi. 10.3390/genes14010199
    By:
    • Sforza, Elisabetta;
    • Margiotta, Gaia;
    • Giorgio, Valentina;
    • Limongelli, Domenico;
    • Proli, Francesco;
    • Kuczynska, Eliza Maria;
    • Leoni, Chiara;
    • De Rose, Cristina;
    • Trevisan, Valentina;
    • Romeo, Domenico Marco;
    • Calandrelli, Rosalinda;
    • De Corso, Eugenio;
    • Massimi, Luca;
    • Palmacci, Osvaldo;
    • Rigante, Donato;
    • Zampino, Giuseppe;
    • Onesimo, Roberta
    Publication type:
    Article
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    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

    Published in:
    Science Progress, 2021, p. 1, doi. 10.1177/00368504211003782
    By:
    • Savarirayan, Ravi;
    • Irving, Melita;
    • Maixner, Wirginia;
    • Thompson, Dominic;
    • Offiah, Amaka C;
    • Connolly, Daniel JA;
    • Raghavan, Ashok;
    • Powell, James;
    • Kronhardt, Marcin;
    • Jeha, George;
    • Ghani, Sajda;
    • Fisheleva, Elena;
    • Day, Jonathan RS
    Publication type:
    Article
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    Anesthesia for cesarean section in a patient with achondroplasia.

    Published in:
    Colombian Journal of Anesthesiology / Revista Colombiana de Anestesiología, 2012, v. 40, n. 4, p. 309
    By:
    • Osorio Rudasa, Walter;
    • Socha García, Nury Isabel;
    • Upegui, Alejandro;
    • Ríos Medina, Ángela;
    • Moran, Adrian;
    • Aguirre Ospina, Oscar;
    • Rivera, Carlos
    Publication type:
    Article
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