Zobrazeno 1 - 10
of 50
pro vyhledávání: '"alfa 1-Antitripsina"'
Autor:
Rafaela Feijó Henriques de Araújo, Marcus Vinícius Guerra Canto, Ana Maria Ataíde de Godoy Pedrosa, Bruna Rocha Menelau de Souza, Alina Farias França de Oliveira
Publikováno v:
Anais da Faculdade de Medicina de Olinda, Vol 1, Iss 6 (2022)
A deficiência de alfa-1 antitripsina (AAT) (AATD) é um distúrbio hereditário codominante autossômico raro que afeta principalmente os pulmões e o fígado1. O único estudo brasileiro que relata a prevalência de A1ATD estima que 2,8% dos pacien
Externí odkaz:
https://doaj.org/article/56e0346d04af4a33a1f9757d467b962b
Autor:
López-Campos Bodineau, José Luis, Rapun, Noelia, Czischke, Karen, Jardim, José R, Fernandez Acquier, Mariano, ALÍ MUNIVE, ABRAHAM, Miravitlles, Marc
Publikováno v:
Scientia
Alpha1 antitrypsin deficiency; Diagnosis; Rare alleles Dèficit d'alfa1 antitripsina; Diagnòstic; Al·lels rars Déficit de alfa1 antitripsina; Diagnóstico; Alelos raros Background Knowledge of the frequency of rare SERPINA1 mutations could help in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3991::727633c4259f425dae13a8238d15e621
https://hdl.handle.net/11351/9726
https://hdl.handle.net/11351/9726
Autor:
Juan Luis Rodríguez Hermosa, Gianna Vargas Centanaro, María Estela González Castro, Marc Miravitlles, Lourdes Lázaro-Asegurado, Beatriz María Jiménez-Rodríguez, Rosanel Amaro Rodríguez, Rosaly Moreno Méndez, María Torres-Duran, José María Hernández-Pérez, Ana María Humanes-Navarro, Myriam Calle Rubio
Publikováno v:
Scientia
Biomedicines
Volume 11
Issue 2
Pages: 516
Biomedicines
Volume 11
Issue 2
Pages: 516
Alpha-1 antitrypsin deficiency; Genetic mutations; Severe COVID-19 Deficiència d'alfa-1 antitripsina; Mutacions genètiques; COVID-19 greu Deficiencia de alfa-1 antitripsina; Mutaciones genéticas; COVID-19 grave Background: Epidemiologic studies ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb82e1104ae56f663cab97bd20283704
https://hdl.handle.net/11351/9203
https://hdl.handle.net/11351/9203
Autor:
Calle Rubio, Myriam, López-Campos, José Luis, Miravitlles, Marc, Michel de la Rosa, Francisco Javier, Hernández Pérez, José María, Montero Martínez, Carmen, Montoro Ronsano, José Bruno, Casas-Maldonado, Francisco, Rodríguez Hermosa, Juan Luis, Tabernero Huguet, Eva María, Martínez Sesmero, José Manuel, Martínez Rivera, Carlos, Callejas González, Francisco Javier, Torres Durán, María, Universitat Autònoma de Barcelona
Publikováno v:
Scientia
Patients with alpha-1 antitrypsin deficiency (AATD), commonly categorized as a rare disease, have been affected by the changes in healthcare management brought about by COVID-19. This study's aim was to identify the changes that have taken place in A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b0b6ba57a72d89b2213be5f52d85c8
https://ddd.uab.cat/record/271595
https://ddd.uab.cat/record/271595
Autor:
Marc Miravitlles, Alice M. Turner, María Torres-Duran, Hanan Tanash, Carlota Rodríguez-García, José Luis López-Campos, Jan Chlumsky, Catarina Guimaraes, Juan Luis Rodríguez-Hermosa, Angelo Corsico, Cristina Martinez-González, José María Hernández-Pérez, Ana Bustamante, David G. Parr, Francisco Casas-Maldonado, Ana Hecimovic, Wim Janssens, Beatriz Lara, Miriam Barrecheguren, Cruz González, Jan Stolk, Cristina Esquinas, Christian F. Clarenbach
Publikováno v:
Respiratory Research (2022) 23:352
Scientia
Scientia
Trial registration www. clini caltr ials. gov (ID: NCT04180319)
Background Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with an increased risk of pulmonary emphysema. The European AATD Research Collaboration (EARCO)
Background Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with an increased risk of pulmonary emphysema. The European AATD Research Collaboration (EARCO)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e40bfbdeb4788e7c3b13596650833620
https://hdl.handle.net/10481/79450
https://hdl.handle.net/10481/79450
Autor:
María Torres-Durán, José Luis López-Campos, Juan Luis Rodríguez-Hermosa, Cristina Esquinas, Cristina Martínez-González, José María Hernández-Pérez, Carlota Rodríguez, Ana Bustamante, Francisco Casas-Maldonado, Miriam Barrecheguren, Cruz González, Marc Miravitlles
Publikováno v:
Scientia
ERJ Open Research 2022; 8: 00213-2022
ERJ Open Research 2022; 8: 00213-2022
[Background] The Spanish registry of α1-antitrypsin deficiency (AATD) integrated in the European Alpha-1 Research Collaboration (EARCO) provides information about the characteristics of patients, in particular those with the PI*SZ genotype, which is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::968293c7a907c6a1eda73ccaba6013f4
https://openres.ersjournals.com/content/erjor/8/3/00213-2022.full.pdf
https://openres.ersjournals.com/content/erjor/8/3/00213-2022.full.pdf
Autor:
José Luis, Lopez-Campos, Lourdes, Osaba, Karen, Czischke, José R, Jardim, Mariano, Fernandez Acquier, Abraham, Ali, Hakan, Günen, Noelia, Rapun, Estrella, Drobnic, Marc, Miravitlles
Publikováno v:
Scientia
[Introduction] Currently, strategies for improving alpha1 antitrypsin deficiency (AATD) diagnosis are needed. Here we report the performance of a multinational multiplex-based genotyping test on dried blood spots and buccal swabs sent by post or cour
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f7ce46ba2901d3964d22eff577f95a6
https://doi.org/10.1186/s12931-022-02074-x
https://doi.org/10.1186/s12931-022-02074-x
Publikováno v:
Jornal Brasileiro de Pneumologia, Vol 40, Iss 6, Pp 669-672 (2014)
Tracheal diverticulum, defined as a benign outpouching of the tracheal wall, is rarely diagnosed in clinical practice. It can be congenital or acquired in origin, and most cases are asymptomatic, typically being diagnosed postmortem. We report a case
Externí odkaz:
https://doaj.org/article/8f127a32352f4599b6283e912da0b750
Autor:
Joan Genescà, Eduardo Loeb, Esther Rodríguez, Pablo Gabriel-Medina, Francisco Rodriguez-Frias, Irene Belmonte, Cristina Esquinas, Georgina Farago, Mònica Pons, Alexa Nuñez, Miriam Barrecheguren, Elena Miranda, Marc Miravitlles
Publikováno v:
Respiratory Research
Scientia
Respiratory Research, Vol 22, Iss 1, Pp 1-9 (2021)
Scientia
Respiratory Research, Vol 22, Iss 1, Pp 1-9 (2021)
Alpha-1 antitrypsin deficiency; Circulating polymers; Emphysema Deficiència d'alfa-1 antitripsina; Polímers circulants; Emfisema Deficiencia de alfa-1 antitripsina; Polímeros circulantes; Enfisema Background Alpha-1 antitrypsin deficiency (AATD) i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efe1fdcff90da10a9b062280a2e3148c
http://europepmc.org/articles/PMC8442448
http://europepmc.org/articles/PMC8442448
Autor:
Laura Russo Zillmer, Rodrigo Russo, Beatriz Martins Manzano, Ivan Ivanaga, Oliver Augusto Nascimento, Altay Alves Lino de Souza, Gildo Santos Junior, Francisco Rodriguez, Marc Miravitlles, Jose Roberto Jardim
Publikováno v:
Jornal Brasileiro de Pneumologia, Vol 39, Iss 5, Pp 547-554 (2013)
OBJECTIVE: To validate and develop an immunonephelometric assay for the determination of alpha-1 antitrypsin (AAT) levels in dried blood spots from COPD patients in Brazil. METHODS: We determined AAT levels in serum samples and dried blood spots from
Externí odkaz:
https://doaj.org/article/454679f1ace2431d9a348c23533b1f9d