Al Mukaddam M, Toder KS, Davis M, Cali A, Liljesthröm M, Hollywood S, Croskery K, Grandoulier AS, Böing EA, Whalen JD, Kaplan FS. The impact of fibrodysplasia ossificans progressiva (FOP) on patients and their family members: results from an international burden of illness survey. Expert Rev Pharmacoecon Outcomes Res, 2022:1-15. https://doi.org/10.2217/frd-2022-0013 |
|
Baujat G, Choquet R, Bouée S, Jeanbat V, Courouve L, Ruel A, Michot C, Le Quan Sang KH, Lapidus D, Messiaen C, Landais P, Cormier- Daire V. Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases. Orphanet J Rare Dis, 2017; 12(1):1-9. https://doi.org/10.1186/s13023-017-0674-5 | |
|
Cai X, Genchev GZ, He P, Lu H, Yu G. Demographics, in-hospital analysis, and prevalence of 33 rare diseases with effective treatment in Shanghai. Orphanet J Rare diseases, 2021; 16(1):1-1. https://doi.org/10.1186/s13023-021-01830-4 | |
|
Gupta RR, Delai PL, Glaser DL, Rocke DM, Al Mukaddam M, Pignolo RJ, Kaplan FS. Prevalence and risk factors for kidney stones in fibrodysplasia ossificans progressiva. Bone, 2018; 109:120-3. https://doi.org/10.1016/j.bone.2017.12.010 | |
|
Kannu P, Levy CE. Improving the diagnosis of fibrodysplasia ossificans progressiva. J Pediatr, 2021; 232:S3-8. https://doi.org/10.1016/j.jpeds.2021.02.036 | |
|
Kaplan FS, Al Mukaddam M, Pignolo RJ. Longitudinal patient-reported mobility assessment in fibrodysplasia ossificans progressiva (FOP). Bone, 2018; 109:158-61. https://doi.org/10.1016/j.bone.2017.06.005 | |
|
Kaplan FS, Hsiao EC, Baujat G, Brown MA, De Cunto C, Di Rocco M, Keen R, Al Mukaddam M, Grogan DR, Pignolo RJ. Assessment tools of physical and functional disability in fibrodysplasia ossificans progressiva. J Bone Miner Res, 2017; 32(1):S391. | |
|
Kitterman JA, Strober JB, Kan L, Rocke DM, Cali A, Peeper J, Snow J, Delai PL, Morhart R, Pignolo RJ, Shore EM, Kaplan FS. Neurological symptoms in individuals with fibrodysplasia ossificans progressiva. J Neurol, 2012; 259(12):2636-43. https://doi.org/10.1007/s00415-012-6562-y | |
|
Kou S, De Cunto C, Baujat G, Wentworth KL, Grogan DR, Brown MA, Di Rocco M, Keen R, Al Mukaddam M, le Quan Sang KH, Masharani U, Kaplan FS, Pignolo RJ, Hsiao EC. Patients with ACVR1 R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of fibrodysplasia ossificans progressiva. Orphanet J Rare Dis, 2020; 15(1):1-0. https://doi.org/10.1186/s13023-020-01465-x | |
|
Mantick N, Bachman E, Baujat G, Brown M, Collins O, De Cunto C, Delai P, Eekhoff M, Zum Felde R, Grogan DR, Haga N, Hsiao E, Kantanie S, Kaplan F, Keen R, Milosevic J, Morhart R, Pignolo R, Qian X, di Rocco M, Scott C, Sherman A, Wallace M, Williams N, Zhang K, Bogard B. The FOP connection registry: design of an international patient-sponsored registry for fibrodysplasia ossificans progressiva. Bone, 2018; 109:285-90. https://doi.org/10.1016/j.bone.2017.08.032 | |
|
Morales-Piga A, Bachiller-Corral J, Trujillo-Tiebas MJ, Villaverde-Hueso A, Gamir-Gamir ML, Alonso-Ferreira V, Vázquez-Díaz M, de la Paz MP, Ayuso-García C. Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects. Bone, 2012; 51(4):748-55. https://doi.org/10.1016/j.bone.2012.07.002 | |
|
Nakahara Y, Kitoh H, Nakashima Y, Toguchida J, Haga N. Longitudinal study of the activities of daily living and quality of life in Japanese patients with fibrodysplasia ossificans progressiva. Disabil Rehabil, 2019; 41(6):699-704. https://doi.org/10.1080/09638288.2017.1405083 | |
|
Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y, Rath A. Estimating cumulative point prevalence of rare diseases: analysis of the orphanet database. Eur J Hum Genet, 2020; 28(2):165-73. https://doi.org/10.1038/s41431-019-0508-0 | |
|
Ortiz-Agapito F, Colmenares-Bonilla D. Quality of life of patients with fibrodysplasia ossificans progressiva. J Child Orthop, 2015; 9(6):489-93. https://doi.org/10.1007/s11832-015-0704-6 | |
|
Peng K, Cheung K, Lee A, Sieberg C, Borsook D, Upadhyay J. Longitudinal evaluation of pain, flare-up, and emotional health in fibrodysplasia ossificans progressiva: analyses of the international FOP registry. JBMR Plus, 2019; 3(8):e10181. https://doi.org/10.1002/jbm4.10181 | |
|
Peng K, Karunakaran KD, Labadie R, Veliu M, Cheung C, Lee A, Yu PB, Upadhyay J. Suppressed prefrontal cortex oscillations associate with clinical pain in fibrodysplasia ossificans progressiva. Orphanet J Rare Dis, 2021; 16(1):1-3. https://doi.org/10.1186/s13023-021-01709-4 | |
|
Pignolo RJ, Cheung K, Kile S, Fitzpatrick MA, De Cunto C, Al Mukaddam M, Hsiao EC, Baujat G, Delai P, Eekhoff EM, Di Rocco M, Grunwald Z, Haga N, Keen R, Levi B, Morhart R, Scott C, Sherman A, Zhang K, Kaplan FS. Self-reported baseline phenotypes from the international fibrodysplasia ossificans progressiva (FOP) association global registry. Bone, 2020; 134:115274. https://doi.org/10.1016/j.bone.2020.115274 | |
|
Pignolo RJ, Hsiao EC, Baujat G, Lapidus D, Sherman A, Kaplan FS. Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization. Orphanet J Rare Dis, 2021; 16(1):1-8. https://doi.org/10.1186/s13023-021-01983-2 | |
|
She D, Li R, Fang P, Zong G, Xue Y, Zhang K. Serum osteocalcin level is associated with the mortality in Chinese patients with fibrodysplasia ossificans progressiva aged≤ 18 years at diagnosis. BMC Musculoskelet Disord, 2020; 21(1):1-8. https://doi.org/10.1186/s12891-020-3170-3 | |
|
Zorzi AR, Delai PR, Rosa HL, Brito WE, Montalli VA, Napimoga JC, Napimoga MH, Nociti FH. Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks. Orphanet J Rare Dis, 2022; 17(1):1-4. https://doi.org/10.1186/s13023-022-02503-6 | |