Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Carmen L. De Cunto"'
Autor:
Maja Di Rocco, Genevieve Baujat, Marta Bertamino, Matthew Brown, Carmen L. De Cunto, Patricia L. R. Delai, Elisabeth M. W. Eekhoff, Nobuhiko Haga, Edward Hsiao, Richard Keen, Rolf Morhart, Robert J. Pignolo, Frederick S. Kaplan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-5 (2017)
Abstract Fibrodysplasia ossificans progressiva (FOP), a disabling disorder of progressive heterotopic ossification (HEO), is caused by heterozygous gain-of- function mutations in Activin receptor A, type I (ACVR1, also known as ALK2), a bone morphoge
Externí odkaz:
https://doaj.org/article/70121a696d704994a6d41ed65d4c72b6
Autor:
Elisabeth M.W. Eekhoff, Ruben D. de Ruiter, Bernard J. Smilde, Ton Schoenmaker, Teun J. de Vries, Coen Netelenbos, Edward C. Hsiao, Christiaan Scott, Nobuhiko Haga, Zvi Grunwald, Carmen L. De Cunto, Maja di Rocco, Patricia L. R. Delai, Robert J. Diecidue, Vrisha Madhuri, Tae-Joon Cho, Rolf Morhart, Clive S. Friedman, Michael Zasloff, Gerard Pals, Jae-Hyuck Shim, Guangping Gao, Frederick Kaplan, Robert J. Pignolo, Dimitra Micha
Publikováno v:
Eekhoff, E M W, de Ruiter, R D, Smilde, B J, Schoenmaker, T, de Vries, T J, Netelenbos, C, Hsiao, E C, Scott, C, Haga, N, Grunwald, Z, De Cunto, C L, di Rocco, M, Delai, P L R, Diecidue, R J, Madhuri, V, Cho, T J, Morhart, R, Friedman, C S, Zasloff, M, Pals, G, Shim, J H, Gao, G, Kaplan, F, Pignolo, R J & Micha, D 2022, ' Gene Therapy for Fibrodysplasia Ossificans Progressiva : Feasibility and Obstacles ', Human gene therapy, vol. 33, no. 15-16, pp. 782-788 . https://doi.org/10.1089/hum.2022.023
Eekhoff, E M W, de Ruiter, R D, Smilde, B J, Schoenmaker, T, de Vries, T J, Netelenbos, C, Hsiao, E C, Scott, C, Haga, N, Grunwald, Z, de Cunto, C L, di Rocco, M, Delai, P L R, Diecidue, R J, Madhuri, V, Cho, T-J, Morhart, R, Friedman, C S, Zasloff, M, Pals, G, Shim, J-H, Gao, G, Kaplan, F, Pignolo, R J & Micha, D 2022, ' Gene Therapy for Fibrodysplasia Ossificans Progressiva : Feasibility and Obstacles ', Human Gene Therapy, vol. 33, no. 15-16, pp. 782-788 . https://doi.org/10.1089/hum.2022.023, https://doi.org/10.1089/hum.2022.023
Eekhoff, E M W, de Ruiter, R D, Smilde, B J, Schoenmaker, T, de Vries, T J, Netelenbos, C, Hsiao, E C, Scott, C, Haga, N, Grunwald, Z, de Cunto, C L, di Rocco, M, Delai, P L R, Diecidue, R J, Madhuri, V, Cho, T-J, Morhart, R, Friedman, C S, Zasloff, M, Pals, G, Shim, J-H, Gao, G, Kaplan, F, Pignolo, R J & Micha, D 2022, ' Gene Therapy for Fibrodysplasia Ossificans Progressiva : Feasibility and Obstacles ', Human Gene Therapy, vol. 33, no. 15-16, pp. 782-788 . https://doi.org/10.1089/hum.2022.023, https://doi.org/10.1089/hum.2022.023
Fibrodysplasia ossificans progressiva (FOP) is a rare and devastating genetic disease, in which soft connective tissue is converted into heterotopic bone through an endochondral ossification process. Patients succumb early as they gradually become tr
Autor:
Carter M. Lindborg, Mona Al Mukaddam, Genevieve Baujat, Tae-Joon Cho, Carmen L. De Cunto, Patricia L. R. Delai, Elisabeth M. W. Eekhoff, Nobuhiko Haga, Edward C. Hsiao, Rolf Morhart, Ruben de Ruiter, Christiaan Scott, Petra Seemann, Małgorzata Szczepanek, Jacek Tabarkiewicz, Robert J. Pignolo, Frederick S. Kaplan
Publikováno v:
Clinical Orthopaedics & Related Research.
Autor:
Sara, Vainman, María M, Heller False Speiser, María L, Posadas Martinez, Lucía, Pérez, María A, Aguirre, María C, Cortines Lapalma, María C, Sánchez, Valeria, Mulli, Carmen L, De Cunto
Publikováno v:
Archivos Argentinos de Pediatria. 120
The continuity of care from pediatrics to adult medicine is key to optimal health care.To describe the experience of the transition process of adolescent patients with chronic diseases from pediatric to adult care in a general hospital.Cross-sectiona
Publikováno v:
Archivos argentinos de pediatria. 118(4)
Hidden curricula are those contents learned that do not belong to the formal curriculum. Narrative medicine allows knowledge of health professionals' experiences. Approaching to the hidden curriculum can allow modifying or reinforcing instances of th
Autor:
Carmen L, De Cunto
Publikováno v:
Archivos argentinos de pediatria. 110(4)
The number of adolescent patients with chronic diseases and special heath needs are increasing, and they are reaching adulthood. Sometimes the passage to the adult health care is abrupt, depending upon the chronological age reached or because of an a
Publikováno v:
Archivos argentinos de pediatria. 107(6)
Musculoskeletal pain is a common symptom in childhood. It is estimated that 5 to 19% of healthy children experience musculoskeletal pain.To estimate the prevalence of musculoskeletal pain and to describe epidemiological characteristics in children 3
Autor:
Silvia, Carrió, Carmen L, De Cunto, Nicolás, Cacchiarelli, Clara, Ceriani Cernadas, Cristina, Catsicaris, Ignacio, Usandivaras
Publikováno v:
Archivos argentinos de pediatria. 106(2)