Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Raquel, Porto Abal"'
Autor:
Ha Trang, Martin Samuels, Isabella Ceccherini, Matthias Frerick, Maria Angeles Garcia-Teresa, Jochen Peters, Johannes Schoeber, Marek Migdal, Agneta Markstrom, Giancarlo Ottonello, Raffaele Piumelli, Maria Helena Estevao, Irena Senecic-Cala, Barbara Gnidovec-Strazisar, Andreas Pfleger, Raquel Porto-Abal, Miriam Katz-Salamon
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-21 (2020)
Abstract Background Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeob
Externí odkaz:
https://doaj.org/article/6d484979e66841ffb1ce84f9a23224fe
Autor:
Agneta Markstrom, Jochen Peters, Giancarlo Ottonello, Ha Trang, Johannes Schoeber, María Ángeles García-Teresa, Martin Samuels, Isabella Ceccherini, Matthias Frerick, Barbara Gnidovec-Strazisar, Marek Migdal, Andreas Pfleger, Raquel Porto-Abal, Maria Helena Estevao, Irena Senecic-Cala, Raffaele Piumelli, Miriam Katz-Salamon
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-21 (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PH
Background: Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::11760b129477ff25e40378f6554e7f69
https://www.bib.irb.hr/1264747
https://www.bib.irb.hr/1264747
Autor:
María Angeles García Teresa, Raquel Porto Abal, Silvia Rodríguez Torres, Diego García Urabayen, Silvia García Martínez, Ha Trang, Angel Campos Barros, Ana Llorente de la Fuente, Arturo Hernández González, Amaya Bustinza Arriortua, Jesús de la Cruz Moreno, Martí Pons Odena, Purificación Ventura Faci, Laura Rubio Ortega, Estela Pérez Ruiz, Antonio Aguilar Fernández, Amaya Pérez Ocón, Borja Osona, Isabel Delgado Pecellin, Ignacio Arroyo Carrera, Javier Sayas Catalán, Elvira González Salas, Carlos Martin de Vicente
Publikováno v:
Anales de Pediatría, Vol 86, Iss 5, Pp 255-263 (2017)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Introducción El síndrome de hipoventilación central congénita (SHCC) es una enfermedad genética muy rara causada por mutaciones en PHOX2B; en 2010 se creó el Consorcio Europeo del Síndrome de Hipoventilación Central, que en 2012 implantó un
Autor:
Silvia Rodríguez Torres, María Angeles García Teresa, Diego García Urabayen, Raquel Porto Abal, Ha Trang, Silvia García Martínez, Angel Campos Barros
Publikováno v:
Anales de Pediatría (English Edition), Vol 86, Iss 5, Pp 255-263 (2017)
Introduction: Congenital central hypoventilation syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care. Aim: To determine t
Autor:
María Angeles, García Teresa, Raquel, Porto Abal, Silvia, Rodríguez Torres, Diego, García Urabayen, Silvia, García Martínez, Ha, Trang, Angel, Campos Barros, Ana, Llorente de la Fuente, Arturo, Hernández González, Amaya, Bustinza Arriortua, Jesús, de la Cruz Moreno, Martí, Pons Odena, Purificación, Ventura Faci, Laura, Rubio Ortega, Estela, Pérez Ruiz, Antonio, Aguilar Fernández, Amaya, Pérez Ocón, Borja, Osona, Isabel, Delgado Pecellin, Ignacio, Arroyo Carrera, Javier, Sayas Catalán, Elvira, González Salas, Carlos Martin, de Vicente
Publikováno v:
Anales de pediatria (Barcelona, Spain : 2003). 86(5)
Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care.To determine the characteristics a
Autor:
Fernando Carceller Lechón, Mercedes de la Torre Espí, Jose Luis Écija Peiró, Raquel Porto Abal
Publikováno v:
Pediatric nephrology (Berlin, Germany). 25(1)
We evaluated the clinical presentation and prognosis of three children with acute glomerulonephritis (AGN) associated with pneumonia. The patient database of Nino Jesus Children's Hospital was analyzed retrospectively (1996-2007) for patients diagnos