Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Antonio Balsamo"'
Autor:
S. F. Ahmed, Tatjana Milenkovic, Eduardo Corrêa Costa, Ruth Krone, Berenice B Mendonca, Niels H Birkebaek, Tania A. S. S. Bachega, Andrea Luczay, Irina-Alexandra Bacila, Martijn J J Finken, Sukran Poyrazoglu, Z. Yavas Abalı, Feyza Darendeliler, Tulay Guran, Eleni Daniel, H. J. van der Kamp, Márta Korbonits, Ajay Thankamony, Ana Vieites, Oliver Blankenstein, Heba Elsedfy, Antonio Balsamo, M. Sandrk, Nils Krone, N. Freeman, Jeremy W. Tomlinson, Klaus Mohnike, Corina Lichiardopol, H.L. Claahsen-van der Grinten, Martine Cools, Walter Bonfig, Salma R Ali, Mirela C Miranda, Rita Ortolano, L. de Vries, Navoda Atapattu, Sabine E. Hannema, Silvia Einaudi, Evelien F. Gevers, J. Bryce, Claire E Higham, Ayla Guven, Richard J. Ross, Violeta Iotova, Uta Neumann
Publikováno v:
European Journal of Endocrinology, 184, 553-563
European Journal of Endocrinology, 184(4), 553-563. BioScientifica Ltd.
Bacila, I, Freeman, N, Daniel, E, Sandrk, M, Bryce, J, Ali, S R, Abali, Z Y, Atapattu, N, Bachega, T A, Balsamo, A, Birkebæk, N, Blankenstein, O, Bonfig, W, Cools, M, Costa, E C, Darendeliler, F, Einaudi, S, Elsedfy, H H, Finken, M J J, Gevers, E, Claahsen-Van der Grinten, H L, Guran, T, Güven, A, Hannema, S E, Higham, C E, Iotova, V, van der Kamp, H J, Korbonits, M, Krone, R E, Lichiardopol, C, Luczay, A, Mendonca, B B, Milenkovic, T, Miranda, M C, Mohnike, K, Neumann, U, Ortolano, R, Poyrazoglu, S, Thankamony, A, Tomlinson, J W, Vieites, A, de Vries, L, Ahmed, S F, Ross, R J & Krone, N P 2021, ' International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia : Data from the I-CAH registry ', European Journal of Endocrinology, vol. 184, no. 4, pp. 553-563 . https://doi.org/10.1530/EJE-20-1249
EUROPEAN JOURNAL OF ENDOCRINOLOGY
European Journal of Endocrinology, 184(4), 553-563. Bioscientifica Ltd
Bacila, I, Freeman, N, Daniel, E, Sandrk, M, Bryce, J, Ali, S R, Abali, Z Y, Atapattu, N, Bachega, T A, Balsamo, A, Birkebæk, N, Blankenstein, O, Bonfig, W, Cools, M, Costa, E C, Darendeliler, F, Einaudi, S, Elsedfy, H H, Finken, M J J, Gevers, E, Claahsen-van der Grinten, H L, Guran, T, Güven, A, Hannema, S E, Higham, C E, Iotova, V, van der Kamp, H J, Korbonits, M, Krone, R E, Lichiardopol, C, Luczay, A, Mendonca, B B, Milenkovic, T, Miranda, M C, Mohnike, K, Neumann, U, Ortolano, R, Poyrazoglu, S, Thankamony, A, Tomlinson, J W, Vieites, A, de Vries, L, Ahmed, S F, Ross, R J & Krone, N P 2021, ' International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia : Data from the I-CAH registry ', European Journal of Endocrinology, vol. 184, no. 4, pp. 553-563 . https://doi.org/10.1530/EJE-20-1249
European Journal of Endocrinology, 184, 4, pp. 553-563
European Journal of Endocrinology, 184(4), 553-563. BioScientifica Ltd.
Bacila, I, Freeman, N, Daniel, E, Sandrk, M, Bryce, J, Ali, S R, Abali, Z Y, Atapattu, N, Bachega, T A, Balsamo, A, Birkebæk, N, Blankenstein, O, Bonfig, W, Cools, M, Costa, E C, Darendeliler, F, Einaudi, S, Elsedfy, H H, Finken, M J J, Gevers, E, Claahsen-Van der Grinten, H L, Guran, T, Güven, A, Hannema, S E, Higham, C E, Iotova, V, van der Kamp, H J, Korbonits, M, Krone, R E, Lichiardopol, C, Luczay, A, Mendonca, B B, Milenkovic, T, Miranda, M C, Mohnike, K, Neumann, U, Ortolano, R, Poyrazoglu, S, Thankamony, A, Tomlinson, J W, Vieites, A, de Vries, L, Ahmed, S F, Ross, R J & Krone, N P 2021, ' International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia : Data from the I-CAH registry ', European Journal of Endocrinology, vol. 184, no. 4, pp. 553-563 . https://doi.org/10.1530/EJE-20-1249
EUROPEAN JOURNAL OF ENDOCRINOLOGY
European Journal of Endocrinology, 184(4), 553-563. Bioscientifica Ltd
Bacila, I, Freeman, N, Daniel, E, Sandrk, M, Bryce, J, Ali, S R, Abali, Z Y, Atapattu, N, Bachega, T A, Balsamo, A, Birkebæk, N, Blankenstein, O, Bonfig, W, Cools, M, Costa, E C, Darendeliler, F, Einaudi, S, Elsedfy, H H, Finken, M J J, Gevers, E, Claahsen-van der Grinten, H L, Guran, T, Güven, A, Hannema, S E, Higham, C E, Iotova, V, van der Kamp, H J, Korbonits, M, Krone, R E, Lichiardopol, C, Luczay, A, Mendonca, B B, Milenkovic, T, Miranda, M C, Mohnike, K, Neumann, U, Ortolano, R, Poyrazoglu, S, Thankamony, A, Tomlinson, J W, Vieites, A, de Vries, L, Ahmed, S F, Ross, R J & Krone, N P 2021, ' International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia : Data from the I-CAH registry ', European Journal of Endocrinology, vol. 184, no. 4, pp. 553-563 . https://doi.org/10.1530/EJE-20-1249
European Journal of Endocrinology, 184, 4, pp. 553-563
Objective Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids in
Autor:
Berenice B. Mendonca, Ana Vieites, Salma R Ali, Nils Krone, Martijn J J Finken, S Faisal Ahmed, Ayla Guven, Richard J. Ross, Silvia Einaudi, Violeta Iotova, Tulay Guran, Rieko Tadokoro-Cuccaro, Evelien F. Gevers, Guilherme Guaragna-Filho, Eduardo Corrêa Costa, James Lewsey, Hannema Se, Mirela C Miranda, Ruth Krone, Rita Ortolano, Niels H Birkebaek, Houra Haghpanahan, Tania A. S. S. Bachega, Andrea Luczay, Sukran Poyrazoglu, Jillian Bryce, Corina Lichiardopol, Christa E. Flück, Oliver Blankenstein, Antonio Balsamo, Ieuan A. Hughes, Claire E Higham, Liat de Vries, Feyza Darendeliler, Hedi L Claahsen-van der Grinten, Martine Cools, Hetty J. van der Kamp, Ajay Thankamony, Anna Nordenström, Navoda Atapattu, Klaus Mohnike, Heba Elsedfy, Walter Bonfig, Li En Tan, Uta Neumann, Márta Korbonits, Tatjana Milenkovic
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 106, 1, pp. E192-E203
The Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 106, E192-E203
Ali, S R, Bryce, J, Haghpanahan, H, Lewsey, J D, Tan, L E, Atapattu, N, Birkebaek, N H, Blankenstein, O, Neumann, U, Balsamo, A, Ortolano, R, Bonfig, W, Claahsen-Van Der Grinten, H L, Cools, M, Costa, E C, Darendeliler, F, Poyrazoglu, S, Elsedfy, H, Finken, M J J, Fluck, C E, Gevers, E, Korbonits, M, Guaragna-Filho, G, Guran, T, Guven, A, Hannema, S E, Higham, C, Hughes, I A, Tadokoro-Cuccaro, R, Thankamony, A, Iotova, V, Krone, N P, Krone, R, Lichiardopol, C, Luczay, A, Mendonca, B B, Bachega, T A S S, Miranda, M C, Milenkovic, T, Mohnike, K, Nordenstrom, A, Einaudi, S, Van Der Kamp, H, Vieites, A, De Vries, L, Ross, R J M & Ahmed, S F 2021, ' Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children with Congenital Adrenal Hyperplasia ', Journal of Clinical Endocrinology and Metabolism, vol. 106, no. 1, pp. E192-E203 . https://doi.org/10.1210/clinem/dgaa694
Ali, S R, Bryce, J, Haghpanahan, H, Lewsey, J D, Tan, L E, Atapattu, N, Birkebaek, N H, Blankenstein, O, Neumann, U, Balsamo, A, Ortolano, R, Bonfig, W, Claahsen-van der Grinten, H L, Cools, M, Costa, E C, Darendeliler, F, Poyrazoglu, S, Elsedfy, H, Finken, M J J, Fluck, C E, Gevers, E, Korbonits, M, Guaragna-Filho, G, Guran, T, Guven, A, Hannema, S E, Higham, C, Hughes, I A, Tadokoro-Cuccaro, R, Thankamony, A, Iotova, V, Krone, N P, Krone, R, Lichiardopol, C, Luczay, A, Mendonca, B B, Bachega, T A S S, Miranda, M C, Milenkovic, T, Mohnike, K, Nordenstrom, A, Einaudi, S, van der Kamp, H, Vieites, A, de Vries, L, Ross, R J M & Ahmed, S F 2021, ' Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children With Congenital Adrenal Hyperplasia ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 1, pp. e192-e203 . https://doi.org/10.1210/clinem/dgaa694
The Journal of clinical endocrinology and metabolism, 106(1), e192-e203. Endocrine Society
The Journal of clinical endocrinology and metabolism, 106(1), e192-e203. The Endocrine Society
The Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 106, E192-E203
Ali, S R, Bryce, J, Haghpanahan, H, Lewsey, J D, Tan, L E, Atapattu, N, Birkebaek, N H, Blankenstein, O, Neumann, U, Balsamo, A, Ortolano, R, Bonfig, W, Claahsen-Van Der Grinten, H L, Cools, M, Costa, E C, Darendeliler, F, Poyrazoglu, S, Elsedfy, H, Finken, M J J, Fluck, C E, Gevers, E, Korbonits, M, Guaragna-Filho, G, Guran, T, Guven, A, Hannema, S E, Higham, C, Hughes, I A, Tadokoro-Cuccaro, R, Thankamony, A, Iotova, V, Krone, N P, Krone, R, Lichiardopol, C, Luczay, A, Mendonca, B B, Bachega, T A S S, Miranda, M C, Milenkovic, T, Mohnike, K, Nordenstrom, A, Einaudi, S, Van Der Kamp, H, Vieites, A, De Vries, L, Ross, R J M & Ahmed, S F 2021, ' Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children with Congenital Adrenal Hyperplasia ', Journal of Clinical Endocrinology and Metabolism, vol. 106, no. 1, pp. E192-E203 . https://doi.org/10.1210/clinem/dgaa694
Ali, S R, Bryce, J, Haghpanahan, H, Lewsey, J D, Tan, L E, Atapattu, N, Birkebaek, N H, Blankenstein, O, Neumann, U, Balsamo, A, Ortolano, R, Bonfig, W, Claahsen-van der Grinten, H L, Cools, M, Costa, E C, Darendeliler, F, Poyrazoglu, S, Elsedfy, H, Finken, M J J, Fluck, C E, Gevers, E, Korbonits, M, Guaragna-Filho, G, Guran, T, Guven, A, Hannema, S E, Higham, C, Hughes, I A, Tadokoro-Cuccaro, R, Thankamony, A, Iotova, V, Krone, N P, Krone, R, Lichiardopol, C, Luczay, A, Mendonca, B B, Bachega, T A S S, Miranda, M C, Milenkovic, T, Mohnike, K, Nordenstrom, A, Einaudi, S, van der Kamp, H, Vieites, A, de Vries, L, Ross, R J M & Ahmed, S F 2021, ' Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children With Congenital Adrenal Hyperplasia ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 1, pp. e192-e203 . https://doi.org/10.1210/clinem/dgaa694
The Journal of clinical endocrinology and metabolism, 106(1), e192-e203. Endocrine Society
The Journal of clinical endocrinology and metabolism, 106(1), e192-e203. The Endocrine Society
Background Although congenital adrenal hyperplasia (CAH) is known to be associated with adrenal crises (AC), its association with patient- or clinician-reported sick day episodes (SDE) is less clear. Methods Data on children with classic 21-hydroxyla
Autor:
Mariacarolina Salerno, Giuseppa Patti, Mohamad Maghnie, Sara Azzolini, Silvia Longhi, Alessandra di Lascio, Gianni Russo, Corrado Betterle, Giusy Ferro, Carla Bizzarri, Marco Cappa, Giorgio Radetti, Marianna Rita Stancampiano, Mariella Valenzise, Donatella Capalbo, Cristina Moracas, Antonio Balsamo, Nella Augusta Greggio, Malgorzata Wasniewska, Federico Baronio
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 106:762-773
Context Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children. Objective To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a
Autor:
Camila D.Almeida Mgnani Silva, Débora de Paula Michelatto, Ana Letícia Gori Lusa, Soara Menabo, Leif Karlsson, Bengt Persson, Svetlana Lajic, Linus J. Östberg, Lilia Baldazzi, Gil Guerra-Júnior, Sofia Helena Valente de Lemos-Marini, Antonio Balsamo, Michela Barbaro, Maricilda Palandi de Mello, Nella Augusta Greggio
Publikováno v:
Clinical Biochemistry. 73:50-56
Objective Congenital adrenal hyperplasia (CAH) is an inborn error of metabolism and a common disorder of sex development where >90% of all cases are due to 21-hydroxylase deficiency. Novel and rare pathogenic variants account for 5% of all clinical c
Autor:
Gianni Russo, Donatella Capalbo, Federico Baronio, Luisa De Sanctis, Antonio Balsamo, Marta Del Pistoia, Anastasia Ibba, Carla Bizzarri
Publikováno v:
Minerva pediatrics. 73(6)
Differences/disorders of sex development (DSD) are defined as a group of congenital conditions in which the development of chromosomal, gonadal or anatomical sex is atypical. The incidence of DSD is 1:4500 births. The current classification divides D
Autor:
Salma R Ali, Ruth Krone, Vivien Thornton-Jones, Feyza Darendeliler, Mirela C Miranda, Violeta Iotova, Tulay Guran, Jillian Bryce, Nils Krone, S Faisal Ahmed, Walter Bonfig, Antonio Balsamo, Amalia Cannuccia, Claire E Higham, Richard J. Ross, Wiebke Arlt, Andrea M. Isidori, Jeremy W. Tomlinson, Ayla Güven, Tania A. S. S. Bachega, Federico Baronio, Márta Korbonits, Berenice B. Mendonca, Riccardo Pofi, Liat de Vries, Alessandro Prete, Andrea Lenzi
Context No consensus exists for optimization of mineralocorticoid therapy in patients with primary adrenal insufficiency. Objective To explore the relationship between mineralocorticoid (MC) replacement dose, plasma renin concentration (PRC), and cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffe3c8e6390e94e14a7fff9c06d34542
http://hdl.handle.net/11573/1347830
http://hdl.handle.net/11573/1347830
Autor:
L. de Sanctis, Daniele Tessaris, E. P. Lanati, Marco Cappa, Stefano Mora, M. L. Brandi, N. Di Iorgi, C Eller Vainicher, Giampiero I. Baroncelli, Mohamad Maghnie, Alessandra Cassio, Antonio Balsamo, Giovanna Weber, Francesco Emma, Iacopo Chiodini, M. L. Bianchi, A. D’Ausilio, Federico Baronio, Franco Antoniazzi
Publikováno v:
Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-7 (2019)
Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-7 (2019)
Background X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23. Symptoms are mainly related to rickets
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e91f755da533f88f51d7ffe05a89231
http://hdl.handle.net/11562/997803
http://hdl.handle.net/11562/997803
Autor:
Giovanna Weber, Lorenzo Iughetti, Barbara Predieri, Graziano Grugni, Maurizio Delvecchio, Giulia Vivi, Alessandro Salvatoni, Antonio Balsamo, Malgorzata Wasniewska, Nella Augusta Greggio, Antonino Crinò, Luigi Gargantini, Uros Hladnik, L. Ragusa, Andrea Corrias, Alba Pilotta
Background Prader-Willi syndrome (PWS) is a genetic disorder due to loss of expression of paternally transcribed genes of the imprinted region of chromosome 15q11-13. PWS is characterized by peculiar signs and symptoms and many endocrine abnormalitie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ff305fada9966a7891dd2fcfaa84fa3
http://www.reference-global.com/loi/jpem
http://www.reference-global.com/loi/jpem
Autor:
Uberto Pagotto, Federico Baronio, Rita Ortolano, Antonio Balsamo, Flaminia Fanelli, Alessandra Cassio, Marco Mezzullo
Publikováno v:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 12(1-3)
In clinical practice, it is fundamental to compare the results of hormonal examinations obtained in the laboratory with reliable reference values. This is particularly difficult when faced with rare conditions, such as disorders of sex development, w
Autor:
Maria Santa Rocca, Rita Ortolano, Lilia Baldazzi, Antonio Balsamo, Alberto Ferlin, Gianni Russo, Soara Menabo, Federico Baronio, Alessandra Cassio
Objective To study the functional properties of six novel missense mutations of the NR5A1 gene encoding the steroidogenic factor 1 (SF-1) identified in six patients with 46,XY disorders of sex development (DSD) and to describe their relative phenotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48731e4953391e4d2357cf56f4ac4967
http://hdl.handle.net/11585/657218
http://hdl.handle.net/11585/657218