Zobrazeno 1 - 10 of 114 pro vyhledávání: '"Pilar Alfonso"'
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Akademický článek
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease
Autor: Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Judith Armstrong, Carmen Calvo, Jaime Dalmau, Maria-Rosario Domingo, Jose-Luis Barbera, Horacio Cano, Maria-Angeles Fernandez-Galán, Rafael Franco, Inmaculada Gracia, Miguel Gracia-Antequera, Angela Ibañez, Francisco Lendinez, Marcos Madruga, Elena Martin-Hernández, Maria del Mar O’Callaghan, Alberto Pérez del Soto, Yolanda Ruiz del Prado, Ignacio Sancho-Val, Pablo Sanjurjo, Miguel Pocovi, Pilar Giraldo
Publikováno v: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-9 (2017)
Abstract Background The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosis and avoided many co
Externí odkaz: https://doaj.org/article/1a7e6eaf92fa43ff82a354ce89bf3c57
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2
Akademický článek
Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases[S]
Autor: AndréR.A. Marques, Mina Mirzaian, Hisako Akiyama, Patrick Wisse, Maria J. Ferraz, Paulo Gaspar, Karen Ghauharali-van der Vlugt, Rianne Meijer, Pilar Giraldo, Pilar Alfonso, Pilar Irún, Maria Dahl, Stefan Karlsson, Elena V. Pavlova, Timothy M. Cox, Saskia Scheij, Marri Verhoek, Roelof Ottenhoff, CindyP.A.A. van Roomen, Navraj S. Pannu, Marco van Eijk, Nick Dekker, Rolf G. Boot, Herman S. Overkleeft, Edward Blommaart, Yoshio Hirabayashi, Johannes M. Aerts
Publikováno v: Journal of Lipid Research, Vol 57, Iss 3, Pp 451-463 (2016)
The membrane lipid glucosylceramide (GlcCer) is continuously formed and degraded. Cells express two GlcCer-degrading β-glucosidases, glucocerebrosidase (GBA) and GBA2, located in and outside the lysosome, respectively. Here we demonstrate that throu
Externí odkaz: https://doaj.org/article/57f08df9b338494281ce0b82ea7d752a
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3
Akademický článek
Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease.
Autor: André R A Marques, Tanit L Gabriel, Jan Aten, Cindy P A A van Roomen, Roelof Ottenhoff, Nike Claessen, Pilar Alfonso, Pilar Irún, Pilar Giraldo, Johannes M F G Aerts, Marco van Eijk
Publikováno v: PLoS ONE, Vol 11, Iss 1, p e0147208 (2016)
Impaired function of NPC1 or NPC2 lysosomal proteins leads to the intracellular accumulation of unesterified cholesterol, the primary defect underlying Niemann-Pick type C (NPC) disease. In addition, glycosphingolipids (GSLs) accumulate in lysosomes
Externí odkaz: https://doaj.org/article/c874fe3fd2384705a0393d03f401a3eb
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4
Akademický článek
La diseminación social de la marca: creación y desarrollo de las marcas ONGD
Autor: Pilar Alfonso Escuder
Publikováno v: Ámbitos, Iss 24 (2014)
El objetivo central de este artículo es analizar la evolución de las organizaciones no gubernamentales para el desarrollo (ONGD) más mediáticas y de mayor presupuesto hacia los planteamientos de las marcas postmodernas. Y ello en el contexto de l
Externí odkaz: https://doaj.org/article/f8f6286c252749528fd935bf8440ca0c
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5
Akademický článek
Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project
Autor: Pilar Giraldo, Pilar Alfonso, Koldo Atutxa, María A. Fernández-Galán, Abelardo Barez, Rafael Franco, Dora Alonso, Alejandro Martin, Paz Latre, Miguel Pocovi
Publikováno v: Haematologica, Vol 94, Iss 12 (2009)
There are few published data from real-world clinical experience with miglustat (Zavesca®), an oral inhibitor of glucosylceramide synthase, in type 1 Gaucher disease. We report data from a prospective, open-label investigational study that evaluated
Externí odkaz: https://doaj.org/article/f38195e3dfaf4cdd93334c182c9bfbf8
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6
Tucatinib plus trastuzumab for chemotherapy-refractory, HER2-positive, RAS wild-type unresectable or metastatic colorectal cancer (MOUNTAINEER): a multicentre, open-label, phase 2 study
Autor: John H Strickler, Andrea Cercek, Salvatore Siena, Thierry André, Kimmie Ng, Eric Van Cutsem, Christina Wu, Andrew S Paulson, Joleen M Hubbard, Andrew L Coveler, Christos Fountzilas, Adel Kardosh, Pashtoon M Kasi, Heinz-Josef Lenz, Kristen K Ciombor, Elena Elez, David L Bajor, Chiara Cremolini, Federico Sanchez, Michael Stecher, Wentao Feng, Tanios S Bekaii-Saab, Marc Peeters, Marc Van den Evnde, Christophe Borg, Matthieu Sarabi, Francois Ghiringhelli, Benoist Chibaudel, Maria G. Zampino, Susana R. Keranen, Ramon Salazar, Pilar Alfonso, John H. Strickler, Andrew S. Paulson, Joleen M. Hubbard, Andrew L. Coveler, Pashtoon M. Kasi, Kristen K. Ciombor, David L. Bajor, Tanios S. Bekaii-Saab, Olumide Gbolahan, Patrick Boland, Daniel Berg, Timothy Goggins, Anwar Saeed, Howard Burris, Johanna Bendell, Darryl Outlaw, Isaac Tafur, Ardaman Shergill, Daniel Catenacci, Jun Gong, Ignacio Garrido-Laguna, Gene Finley, Benjamin Weinberg, Anthony Shields, Philip Philip, Anita Turk, Anthony Nguyen, Fadi Braiteh, Vijay Patel, William Harwin, Ian Anderson, Ajay Kundra, Christopher Chen, James Ford, Madappa Kundranda, Danny Nguyen, Suresh Ratnam, Donald Richards, Sujatha Nallapareddy, Sridhar Beeram, Scott McKenney, Spencer Shao
Publikováno v: The Lancet Oncology. 24:496-508
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7adfd2ad44d4d2c2a9c7ef887cf177ac
https://doi.org/10.1016/s1470-2045(23)00150-x
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7
Allelic and phenotypic characterization of CYP2D6 and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients
Autor: Pilar Giraldo, Laura López de Frutos, Pilar Alfonso, Carlos Lahoz, Pilar Irún
Publikováno v: Zaguán: Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Background: Cytochrome p450 is the main drug metabolic pathway. CYP2D6 is a highly polymorphic gene that encodes a cytochrome p450 enzyme with three activity levels: null, reduced and normal. Apart from another type of mutations CYP2D6 can suffer dup
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2b7d44dd28bdaf1ea740a69a1b56cce
https://pubmed.ncbi.nlm.nih.gov/32466973
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8
Twelve years of experience with miglustat in the treatment of type 1 Gaucher disease: The Spanish ZAGAL project
Autor: Javier de la Serna, Jose Manuel Puerta, Rafael Franco, Antonio Acedo, Blanca Medrano-Engay, Marcio Andrade-Campos, Cristina Gil-Cortes, Vicente Giner, Olga Salamero, Lucia Villalon, Abelardo Bárez, Paz Latre, Koldo Atutxa, Ines Loyola, Inmaculada Roig, Vicente Diaz-Morant, Ma Angeles Fernández-Galán, Elisa Luño, Roberto Hernández-Martin, Angela Ibañez, Pilar Giraldo, Pilar Irún, Miguel Pocovi, Pilar Alfonso, Margarita Blanes
Publikováno v: BLOOD CELLS MOLECULES AND DISEASES
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
We report data from a prospective, observational study (ZAGAL) evaluating miglustat 100mg three times daily orally. in treatment-naïve patients and patients with type 1 Gaucher Disease (GD1) switched from previous enzyme replacement therapy (ERT). C
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84d50d2f513f80f4a6efccd4dcaa63c8
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2366
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10
Los logos de las marcas ongd. Sentido e evolución
Autor: Pilar Alfonso Escuder
Publikováno v: Revista de Estudios para el Desarrollo Social de la Comunicación. :228-247
La hipotesis inicial de este articulo es que, desde mediados de los anos noventa, la logica de marca se ha extendido al ambito de la cooperacion y de la ayuda humanitaria. Que en las ultimas decadas las grandes ONGD han devenido marcas postmodernas.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::80da12a7fcc8b663e8c29e4d5704c9ad
https://doi.org/10.15213/redes.n11.p228
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