Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Malalties congènites - Tractament"'
Autor:
Gema Ariceta, Laure Collard, Saoussen Abroug, Shabbir H. Moochhala, Edward Gould, Abir Boussetta, Mohamed Ben Hmida, Sudarsana De, Tracy E. Hunley, Faical Jarraya, Gloria Fraga, Ana Banos, Elisabeth Lindner, Bastian Dehmel, Gesa Schalk
Publikováno v:
PEDIATRIC NEPHROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Scientia
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Scientia
Background Primary hyperoxalurias (PHs) are rare genetic diseases that increase the endogenous level of oxalate, a waste metabolite excreted predominantly by the kidneys and also the gut. Treatments aim to improve oxalate excretion, or reduce oxalate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81f1afa0cbbe74e917bec91eb873c8a3
https://doi.org/10.1007/s00467-022-05591-5
https://doi.org/10.1007/s00467-022-05591-5
Autor:
Pitcher, Alex, Spata, Enti, Emberson, Jonathan, Davies, Kelly, Halls, Heather, Holland, Lisa, Wilson, Kate, Reith, Christina, Child, Anne H, Clayton, Tim, Dodd, Matthew, Flather, Marcus, Jin, Xu Yu, Sandor, George, Groenink, Maarten, Mulder, Barbara, Backer, Julie De, Evangelista Masip, Arturo, Forteza, Alberto, Teixido-Tura, Gisela, Boileau, Catherine, Jondeau, Guillaume, Milleron, Olivier, Lacro, Ronald V., Sleeper, Lynn A, Chiu, Hsin-Hui, Wu, Mei-Hwan, Neubauer, Stefan, Watkins, Hugh, Dietz, Hal, Baigent, Colin, Universitat Autònoma de Barcelona
Publikováno v:
Scientia
The Lancet, 400(10355), 822-831. Elsevier Limited
LANCET
The Lancet, 400(10355), 822-831. Elsevier Limited
LANCET
Angiotensin receptor blockers; Marfan syndrome Bloquejadors dels receptors d'angiotensina; Síndrome de Marfan Bloqueadores de los receptores de angiotensina; Síndrome de Marfan Background Angiotensin receptor blockers (ARBs) and β blockers are wid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::755e0799c07e6baa3f3217b33809ffde
https://ueaeprints.uea.ac.uk/id/eprint/88024/
https://ueaeprints.uea.ac.uk/id/eprint/88024/
Autor:
Michelle A. Baum, Craig Langman, Pierre Cochat, John C. Lieske, Shabbir H. Moochhala, Shuzo Hamamoto, Hiroyuki Satoh, Chebl Mourani, Gema Ariceta, Armando Torres, Martin Wolley, Vladimir Belostotsky, Thomas A. Forbes, Jaap Groothoff, Wesley Hayes, Burkhard Tönshoff, Tatsuya Takayama, Ralf Rosskamp, Kerry Russell, Jing Zhou, Aniruddha Amrite, Bernd Hoppe
Publikováno v:
Kidney international, 103(1), 207-217. Nature Publishing Group
Scientia
Scientia
Chronic kidney disease; Pediatric nephrology; Urology Malaltia renal crònica; Nefrologia pediàtrica; Urologia Enfermedad renal crónica; Nefrología pediátrica; Urología Nedosiran is an investigational RNA interference agent designed to inhibit e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79554d82970477958a5b26a8f292460d
https://pubmed.ncbi.nlm.nih.gov/36007597
https://pubmed.ncbi.nlm.nih.gov/36007597
Autor:
Neil Lawrence, Irina Bacila, Jeremy Dawson, Jillian Bryce, Salma R. Ali, Erica L. T. van den Akker, Tânia A. S. S. Bachega, Federico Baronio, Niels H. Birkebæk, Walter Bonfig, Hedi C. van der Grinten, Eduardo C. Costa, Liat de Vries, Heba Elsedfy, Ayla Güven, Sabine Hannema, Violeta Iotova, Hetty J. van der Kamp, María Clemente, Corina R. Lichiardopol, Tatjana Milenkovic, Uta Neumann, Ana Nordenström, Şukran Poyrazoğlu, Ursina Probst‐Scheidegger, Luisa De Sanctis, Rieko Tadokoro‐Cuccaro, Ajay Thankamony, Ana Vieites, Zehra Yavaş, Syed Faisal Ahmed, Nils Krone
Publikováno v:
Clinical Endocrinology. Wiley-Blackwell
Lawrence, N, Bacila, I, Dawson, J, Bryce, J, Ali, S R, van den Akker, E L T, Bachega, T A S S, Baronio, F, Birkebæk, N H, Bonfig, W, van der Grinten, H C, Costa, E C, de Vries, L, Elsedfy, H, Güven, A, Hannema, S, Iotova, V, van der Kamp, H J, Clemente, M, Lichiardopol, C R, Milenkovic, T, Neumann, U, Nordenström, A, Poyrazoğlu, Ş, Probst-Scheidegger, U, De Sanctis, L, Tadokoro-Cuccaro, R, Thankamony, A, Vieites, A, Yavaş, Z, Faisal Ahmed, S & Krone, N 2022, ' Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry ', Clinical Endocrinology, vol. 97, no. 5, pp. 551-561 . https://doi.org/10.1111/cen.14796
Clinical Endocrinology, 97(5), 551-561. Wiley-Blackwell Publishing Ltd
Lawrence, N, Bacila, I, Dawson, J, Bryce, J, Ali, S R, van den Akker, E L T, Bachega, T N A S S, Baronio, F, Birkebæk, N H, Bonfig, W, van der Grinten, H C, Costa, E C, de Vries, L, Elsedfy, H, Güven, A, Hannema, S, Iotova, V, van der Kamp, H J, León, M C, Lichiardopol, C R, Milenkovic, T, Neumann, U, Nordenström, A, Poyrazoğlu, Ş, Probst-Scheidegger, U, de Sanctis, L, Tadokoro-Cuccaro, R, Thankamony, A, Vieites, A, Yavaş, Z, Faisal Ahmed, S & Krone, N 2022, ' Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry ', Clinical Endocrinology, vol. 97, no. 5, pp. 551-561 . https://doi.org/10.1111/cen.14796
Scientia
Clinical Endocrinology, 97(5), 551-561. Wiley-Blackwell
Lawrence, N, Bacila, I, Dawson, J, Bryce, J, Ali, S R, van den Akker, E L T, Bachega, T A S S, Baronio, F, Birkebæk, N H, Bonfig, W, van der Grinten, H C, Costa, E C, de Vries, L, Elsedfy, H, Güven, A, Hannema, S, Iotova, V, van der Kamp, H J, Clemente, M, Lichiardopol, C R, Milenkovic, T, Neumann, U, Nordenström, A, Poyrazoğlu, Ş, Probst-Scheidegger, U, De Sanctis, L, Tadokoro-Cuccaro, R, Thankamony, A, Vieites, A, Yavaş, Z, Faisal Ahmed, S & Krone, N 2022, ' Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry ', Clinical Endocrinology, vol. 97, no. 5, pp. 551-561 . https://doi.org/10.1111/cen.14796
Clinical Endocrinology, 97(5), 551-561. Wiley-Blackwell Publishing Ltd
Lawrence, N, Bacila, I, Dawson, J, Bryce, J, Ali, S R, van den Akker, E L T, Bachega, T N A S S, Baronio, F, Birkebæk, N H, Bonfig, W, van der Grinten, H C, Costa, E C, de Vries, L, Elsedfy, H, Güven, A, Hannema, S, Iotova, V, van der Kamp, H J, León, M C, Lichiardopol, C R, Milenkovic, T, Neumann, U, Nordenström, A, Poyrazoğlu, Ş, Probst-Scheidegger, U, de Sanctis, L, Tadokoro-Cuccaro, R, Thankamony, A, Vieites, A, Yavaş, Z, Faisal Ahmed, S & Krone, N 2022, ' Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry ', Clinical Endocrinology, vol. 97, no. 5, pp. 551-561 . https://doi.org/10.1111/cen.14796
Scientia
Clinical Endocrinology, 97(5), 551-561. Wiley-Blackwell
Funder: European Society for Paediatric Endocrinology Research Unit
OBJECTIVE: Congenital adrenal hyperplasia (CAH) requires exogenous steroid replacement. Treatment is commonly monitored by measuring 17-OH progesterone (17OHP) and androstenedio
OBJECTIVE: Congenital adrenal hyperplasia (CAH) requires exogenous steroid replacement. Treatment is commonly monitored by measuring 17-OH progesterone (17OHP) and androstenedio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af9b36d82eac4a4fadb9fe4277d9926c
https://doi.org/10.1111/cen.14796
https://doi.org/10.1111/cen.14796
Autor:
Nowotny, Hanna, Neumann, Uta, Tardy-Guidollet, Véronique, Ahmed, S Faisal, Baronio, Federico, Battelino, Tadej, Bertherat, Jérôme, Blankenstein, Oliver, Bonomi, Marco, Bouvattier, Claire, Brac de la Perrière, Aude, Brucker, Sara, Cappa, Marco, Chanson, Philippe, Claahsen-van der Grinten, Hedi L., Colao, Annamaria, Cools, Martine, Davies, Justin H., Dörr, Helmut-Günther, Fenske, Wiebke K., Ghigo, Ezio, Giordano, Roberta, Gravholt, Claus H., Huebner, Angela, Husebye, Eystein Sverre, Igbokwe, Rebecca, Juul, Anders, Kiefer, Florian W., Léger, Juliane, Menassa, Rita, Meyer, Gesine, Neocleous, Vassos, Phylactou, Leonidas A., Rohayem, Julia, Russo, Gianni, Scaroni, Carla, Touraine, Philippe, Unger, Nicole, Vojtková, Jarmila, Yeste, Diego, Lajic, Svetlana, Reisch, Nicole, Cools, Martin, Doerr, Helmuth-Guenther
Publikováno v:
European Journal of Endocrinology (EJE)
EUROPEAN JOURNAL OF ENDOCRINOLOGY
European Journal of Endocrinology, 186, 5, pp. K17-k24
Nowotny, H, Neumann, U, Tardy-Guidollet, V, Faisal Ahmed, S, Baronio, F, Battelino, T, Bertherat, J, Blankenstein, O, Bonomi, M, Bouvattier, C, De la Perrière, A B, Brucker, S, Cappa, M, Chanson, P, Van der Grinten, H L C, Colao, A, Cools, M, Davies, J H, Dorr, H G, Fenske, W K, Ghigo, E, Giordano, R, Gravholt, C H, Huebner, A, Husebye, E S, Igbokwe, R, Juul, A, Kiefer, F W, Leger, J, Menassa, R, Meyer, G, Neocleous, V, Phylactou, L A, Rohayem, J, Russo, G, Scaroni, C, Touraine, P, Unger, N, Vojtkova, J, Yeste, D, Lajic, S & Reisch, N 2022, ' Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe ', European Journal of Endocrinology, vol. 186, no. 5, pp. K17-K24 . https://doi.org/10.1530/EJE-21-0554
Scientia
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
K17-K24
Nowotny, H, Neumann, U, Tardy-Guidollet, V, Ahmed, S F, Baronio, F, Battelino, T, Bertherat, J, Blankenstein, O, Bonomi, M, Bouvattier, C, de la Perrière, A B, Brucker, S, Cappa, M, Chanson, P, Van der Grinten, H L C, Colao, A, Cools, M, Davies, J H, Dörr, H-G, Fenske, W K, Ghigo, E, Giordano, R, Gravholt, C H, Huebner, A, Husebye, E S, Igbokwe, R, Juul, A, Kiefer, F W, Léger, J, Menassa, R, Meyer, G, Neocleous, V, Phylactou, L A, Rohayem, J, Russo, G, Scaroni, C, Touraine, P, Unger, N, Vojtkova, J, Yeste, D, Lajic, S & Reisch, N 2022, ' Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe ', European Journal of Endocrinology, vol. 186, no. 5, pp. K17-K24 . https://doi.org/10.1530/EJE-21-0554
European Journal of Endocrinology, 186, K17-k24
EUROPEAN JOURNAL OF ENDOCRINOLOGY
European Journal of Endocrinology, 186, 5, pp. K17-k24
Nowotny, H, Neumann, U, Tardy-Guidollet, V, Faisal Ahmed, S, Baronio, F, Battelino, T, Bertherat, J, Blankenstein, O, Bonomi, M, Bouvattier, C, De la Perrière, A B, Brucker, S, Cappa, M, Chanson, P, Van der Grinten, H L C, Colao, A, Cools, M, Davies, J H, Dorr, H G, Fenske, W K, Ghigo, E, Giordano, R, Gravholt, C H, Huebner, A, Husebye, E S, Igbokwe, R, Juul, A, Kiefer, F W, Leger, J, Menassa, R, Meyer, G, Neocleous, V, Phylactou, L A, Rohayem, J, Russo, G, Scaroni, C, Touraine, P, Unger, N, Vojtkova, J, Yeste, D, Lajic, S & Reisch, N 2022, ' Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe ', European Journal of Endocrinology, vol. 186, no. 5, pp. K17-K24 . https://doi.org/10.1530/EJE-21-0554
Scientia
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
K17-K24
Nowotny, H, Neumann, U, Tardy-Guidollet, V, Ahmed, S F, Baronio, F, Battelino, T, Bertherat, J, Blankenstein, O, Bonomi, M, Bouvattier, C, de la Perrière, A B, Brucker, S, Cappa, M, Chanson, P, Van der Grinten, H L C, Colao, A, Cools, M, Davies, J H, Dörr, H-G, Fenske, W K, Ghigo, E, Giordano, R, Gravholt, C H, Huebner, A, Husebye, E S, Igbokwe, R, Juul, A, Kiefer, F W, Léger, J, Menassa, R, Meyer, G, Neocleous, V, Phylactou, L A, Rohayem, J, Russo, G, Scaroni, C, Touraine, P, Unger, N, Vojtkova, J, Yeste, D, Lajic, S & Reisch, N 2022, ' Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe ', European Journal of Endocrinology, vol. 186, no. 5, pp. K17-K24 . https://doi.org/10.1530/EJE-21-0554
European Journal of Endocrinology, 186, K17-k24
Dexamethasone; Prenatal Dexametasona; Prenatal Dexametasona; Prenatal Objective To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficienc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ce808d0a2d57a60da9e6d76e6b721bc
http://hdl.handle.net/11577/3451581
http://hdl.handle.net/11577/3451581
Autor:
Serapiglia, Vincent, Stephens, Chad A., Joshi, Rashika, Aydin, Emrah, Oria, Marc, Marotta, Mario, Peiro, Jose L., Varisco, Brian M., Universitat Autònoma de Barcelona
Publikováno v:
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientia
Universitat Autònoma de Barcelona
Scientia
Basal cell; Fetal tracheal occlusion; Mechanotransduction Célula basal; Oclusión traqueal fetal; Mecanotransducción Cèl·lula basal; Oclusió traqueal fetal; Mecanotransducció Fetal endoscopic tracheal occlusion (FETO) is an emerging surgical th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::882081d5c3ad77d0c3c4825dafb604f4
https://hdl.handle.net/20.500.11776/4829
https://hdl.handle.net/20.500.11776/4829
Autor:
Elena Martín-Hernández, Pilar Quijada-Fraile, Patricia Correcher, Silvia Meavilla, Paula Sánchez-Pintos, Javier de las Heras Montero, Javier Blasco-Alonso, Lucy Dougherty, Ana Marquez, Luis Peña-Quintana, Elvira Cañedo, María Concepción García-Jimenez, Pedro Juan Moreno Lozano, Mercedes Murray Hurtado, María Camprodon Gómez, Delia Barrio-Carreras, Mariela de los Santos, Mireia del Toro, María L. Couce, Isidro Vitoria Miñana, Montserrat Morales Conejo, Marcello Bellusci
Publikováno v:
Journal of clinical medicine
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Journal of Clinical Medicine; Volume 11; Issue 17; Pages: 5045
Scientia
Addi. Archivo Digital para la Docencia y la Investigación
Universidad de Cantabria (UC)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Journal of Clinical Medicine; Volume 11; Issue 17; Pages: 5045
Scientia
Addi. Archivo Digital para la Docencia y la Investigación
Universidad de Cantabria (UC)
Clinical practice; Glycerol phenylbutyrate; Urea cycle disorders Práctica clinica; Fenilbutirato de glicerol; Trastornos del ciclo de la urea Pràctica clínica; Fenilbutirat de glicerol; Trastorns del cicle de la urea Background and objectives: Gly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ad5d5afb29fad70bd449b713e0a12e9
https://doi.org/10.3390/jcm11175045
https://doi.org/10.3390/jcm11175045
Autor:
Mar Guilarte, Anna Sala-Cunill, María Luisa Baeza, Rosario Cabañas, María Dolores Hernández, Ethel Ibañez, Carlos Hernando de Larramendi, Ramon Lleonart, Teófilo Lobera, Luis Marqués, Blanca Sáenz de San Pedro, Jaco Botha, Irmgard Andresen, Teresa Caballero, for the IOS Study Group
Publikováno v:
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
Allergy, Asthma & Clinical Immunology, Vol 17, Iss 1, Pp 1-11 (2021)
Scientia
Allergy, Asthma & Clinical Immunology, Vol 17, Iss 1, Pp 1-11 (2021)
Scientia
Bradykinin; Hereditary angioedema; Icatibant Bradicinina; Angioedema hereditario; Icatibant Bradicinina; Angioedema hereditari; Icatibant Background The Icatibant Outcome Survey (IOS) is an international registry monitoring the use of icatibant, a br
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5a93368e3638b37df9d2c8e90768d15
https://pubmed.ncbi.nlm.nih.gov/34965883
https://pubmed.ncbi.nlm.nih.gov/34965883
Autor:
[Roqué-Figuls M, Solà-Arnau I] Centro Cochrane Iberoamericano-Institut de Recerca Biomèdica Sant Pau (IIB-Sant Pau), Barcelona, Spain. CIBER en Epidemiología y Salud Pública (CIBERESP), Madrid, Spain. [Salas-Gama K, Requeijo-Lorenzo C] Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Institut de Recerca Biomèdica Sant Pau (IIB-Sant Pau), Barcelona, Spain, Departament de Salut
Publikováno v:
Scientia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______272::24546582e75fac72f3abcf3b52b402fe
https://hdl.handle.net/2072/433357
https://hdl.handle.net/2072/433357
Publikováno v:
Scientia
Genisteína; Síndrome de Sanfilippo; Sistema Nacional de Salud Genisteïna; Síndrome de Sanfilippo: Sistema Nacional de Salut Genistein; Sanfilippo disease; National Health System Antecedentes La genisteína es una terapia de reducción del sustrat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3991::c717cc3aab9909346808ce5333db2e4d
https://hdl.handle.net/11351/3983
https://hdl.handle.net/11351/3983