المؤلفون: Giugliani, Roberto, Niu, Dau-Ming, Ramaswami, Uma, West, Michael, Hughes, Derralynn, Kampmann, Christoph, Pintos-Morell, Guillem, Nicholls, Kathleen, Schenk, Jörn-Magnus, Beck, Michael

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2016 4

مصطلحات موضوعية: agalsidase alfa, enzyme replacement therapy, Fabry disease, Fabry Outcome Survey, outcomes

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100408

المؤلفون: Lerussi, Giovanni, Villagrasa-Araya, Verónica, Moltó-Abad, Marc, del Toro, Mireia, Pintos-Morell, Guillem, Seras-Franzoso, Joaquin, Abasolo, Ibane

المصدر: Life (2075-1729); Jan2025, Vol. 15 Issue 1, p70, 30p

مصطلحات موضوعية: LYSOSOMAL storage diseases, ENZYME replacement therapy, ANGIOKERATOMA corporis diffusum, SANFILIPPO syndrome, EXTRACELLULAR vesicles

المؤلفون: Casado, Enrique, Gomez Alonso, Carlos, Bou, Rosa, Barreda Bonis, Ana Coral, Torregrosa, Jose-Vicente, Chocron de Benzaquen, Sara, Pintos-Morell, Guillem

المساهمون: Institut Català de la Salut, Casado E Rheumatology Department, Hospital Universitario Parc Taulí, Sabadell, Barcelona, Spain. Gómez-Alonso C Bone and Mineral Metabolism Clinical Management Unit, Hospital Universitario Central de Asturias, Oviedo, Spain. Pintos-Morell G Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Bou-Torrent R Paediatric Rheumatology Unit, Hospital Sant Joan de Déu, Barcelona, Spain. Barreda-Bonis AC Paediatric Endocrinology Department, Hospital Universitario la Paz, Madrid, Spain. Torregrosa JV Department of Nephrology and Renal Transplant, Hospital Clínic de Barcelona, Barcelona, Spain. Chocrón-de-Benzaquen S Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Ossos - Malalties, Cèl·lules òssies, Assistència sanitària, Decisió de grup, HEALTH CARE::Health Services Administration::Patient Care Management::Comprehensive Health Care::Primary Health Care::Continuity of Patient Care::Transition to Adult Care, DISEASES::Musculoskeletal Diseases::Bone Diseases::Bone Diseases, Metabolic, PSYCHIATRY AND PSYCHOLOGY::Behavior and Behavior Mechanisms::Psychology, Social::Group Processes::Consensus, ATENCIÓN DE SALUD::administración de los servicios de salud::gestión de la atención al paciente::atención integral de salud::atención primaria de la salud::continuidad de la atención al paciente::tránsito a la atención adulta, ENFERMEDADES::enfermedades musculoesqueléticas::enfermedades óseas::enfermedades óseas metabólicas, PSIQUIATRÍA Y PSICOLOGÍA::conducta y mecanismos de la conducta::psicología social::procesos de grupo::consenso

وصف الملف: application/pdf

Relation: Orphanet Journal of Rare Diseases;18; https://doi.org/10.1186/s13023-023-02856-6; Casado E, Gómez-Alonso C, Pintos-Morell G, Bou-Torrent R, Barreda-Bonis AC, Torregrosa JV, et al. Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement. Orphanet J Rare Dis. 2023 Aug 29;18:245.; https://hdl.handle.net/11351/10218

الاتاحة: https://hdl.handle.net/11351/10218
https://doi.org/10.1186/s13023-023-02856-6

المؤلفون: Beck, Michael, Ramaswami, Uma, Hernberg-Stahl, Elizabeth, Hughes, Derralynn A, Kampmann, Christoph, Mehta, Atul B, Nicholls, Kathleen, Niu, Dau-Ming, Pintos-Morell, Guillem, Reisin, Ricardo, West, Michael L, Schenk, Jorn, Anagnostopoulou, Christina, Botha, Jaco, Giugliani, Roberto

المصدر: Orphanet Journal of Rare Diseases , 17 , Article 238. (2022)

مصطلحات موضوعية: Agalsidase alfa, Enzyme replacement therapy, Fabry disease, Cardiovascular outcomes, Renal outcomes

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10152387/2/Hughes_Twenty%20years%20of%20the%20Fabry%20Outcome%20Survey_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10152387/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10152387/2/Hughes_Twenty%20years%20of%20the%20Fabry%20Outcome%20Survey_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10152387/

المؤلفون: Barbero-Herranz, Raquel, Garriga-García, María, Moreno-Blanco, Ana, Palacios, Esther, Ruiz-Sala, Pedro, Vicente-Santamaría, Saioa, Stanescu, Sinziana, Belanger-Quintana, Amaya, Pintos-Morell, Guillem, Arconada, Beatriz, del Campo, Rosa, Avendaño-Ortiz, José

المصدر: International Journal of Molecular Sciences; Aug2024, Vol. 25 Issue 16, p8856, 15p

مصطلحات موضوعية: SANFILIPPO syndrome, GUT microbiome, HEPARAN sulfate, CONGENITAL disorders, QUALITY of life, BACTEROIDES fragilis

المؤلفون: Pintos-Morell, Guillem, Iascone, Maria, Casari, Giorgio, Yahyaoui, Raquel, Tãtaru, Elena-Alexandra, van Karnebeek, Clara D. M., van Spronsen, Francjan J.

المصدر: Rare Disease and Orphan Drugs Journal ; volume 3, issue 2, page 19 ; ISSN 2771-2893

الاتاحة: http://dx.doi.org/10.20517/rdodj.2023.52

المؤلفون: Carnicer-Cáceres, Clara, Arranz-Amo, Jose Antonio, Cea-Arestin, Cristina, Camprodon-Gomez, Maria, Moreno-Martinez, David, Lucas-Del-Pozo, Sara, Moltó Abad, Marc, Tigri-Santiña, Ariadna, Agraz Pamplona, Irene, Rodriguez-Palomares, Jose F., Hernández-Vara, Jorge, Armengol-Bellapart, Mar, Del Toro, Mireia, Pintos-Morell, Guillem, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Fabry disease, Classic phenotype, Late-onset phenotype, Biomarkers, Cardiomyopathy, Chronic kidney disease, Vasculopathy, Lyso-gb3, Gb3, Inflammatory response

وصف الملف: application/pdf

Relation: Journal of clinical medicine; Vol. 10 (april 2021); https://ddd.uab.cat/record/255530; urn:10.3390/jcm10081664; urn:oai:ddd.uab.cat:255530; urn:pmcid:PMC8068937; urn:pmc-uid:8068937; urn:oai:pubmedcentral.nih.gov:8068937; urn:pmid:33924567; urn:oai:egreta.uab.cat:publications/ecf5f93b-46c9-4b08-81b4-c5a96d8a8d0b

الاتاحة: https://ddd.uab.cat/record/255530

المؤلفون: Seras-Franzoso, Joaquin, Díaz Riascos, Zamira Vanessa, Corchero Nieto, José Luis, González, Patricia, García Aranda, Natalia, Mandaña, Mònica, Riera, Roger, Boullosa, Ana, Mancilla, Sandra, Grayston, Alba, Moltó-Abad, Marc, Garcia-Fruitos, Elena, Mendoza, Rosa, Pintos-Morell, Guillem, Albertazzi, Lorenzo, Rosell Novel, Anna, Casas, Josefina, Villaverde Corrales, Antonio, Schwartz, Simon, Abasolo, Ibane

مصطلحات موضوعية: Alpha-galactosidase A, Drug delivery, Enzyme replacement therapy, Fabry disease, Lysosomal storage disorders, N-sulfoglucosamine sulfohydrolase, Sanfilippo syndrome

وصف الملف: application/pdf

Relation: Journal of extracellular vesicles; Vol. 10 (march 2021); https://ddd.uab.cat/record/255365; urn:10.1002/jev2.12058; urn:oai:ddd.uab.cat:255365; urn:pmcid:PMC7953474; urn:oai:pubmedcentral.nih.gov:7953474; urn:pmid:33738082; urn:scopus_id:85102887987

الاتاحة: https://ddd.uab.cat/record/255365

المؤلفون: Koehorst, Emma, Núñez-Manchón, Judit, Ballester-Lopez, Alfonsina, Almendrote, Míriam, Lucente, Giuseppe, Arbex, Andrea, Chojnacki, Jakub, Vázquez-Manrique, Rafael P., Gómez-Escribano, Ana Pilar, Pintos-Morell, Guillem, Coll-Cantí, Jaume, Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Suelves Esteban, Mònica, Nogales, Gisela, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Antisense transcription, Myotonic dystrophies, Phenotypic modulators, Primary cell cultures, RAN translation

وصف الملف: application/pdf

Relation: Ministerio de Economía y Competitividad PI15/01756; Instituto de Salud Carlos III PI18/00713; Ministerio de Economía y Competitividad CD14/00032; Agencia Estatal de Investigación PID2020-118730RB-I00; Ministerio de Economía y Competitividad CM16/00016; Ministerio de Economía y Competitividad CPII16/00004; Instituto de Salud Carlos III PI17/00011; Instituto de Salud Carlos III PI20/00114; Journal of clinical medicine; Vol. 10 (november 2021); https://ddd.uab.cat/record/282874; urn:10.3390/jcm10235520; urn:oai:ddd.uab.cat:282874; urn:pmcid:PMC8658563; urn:pmc-uid:8658563; urn:pmid:34884222; urn:oai:pubmedcentral.nih.gov:8658563

الاتاحة: https://ddd.uab.cat/record/282874

المؤلفون: Carnicer Cáceres, Clara, Arranz Amo, José Antonio, Cea Arestín, Cristina, Camprodon Gomez, Maria, Moreno Martinez, David, Lucas del Pozo, Sara, Moltó Abad, Marc Miquel, Tigri-Santiña, Ariadna, Agraz Pamplona, Irene, Hernández Vara, Jorge, Armengol Bellapart, Mar, del Toro Riera, Mireia, Pintos Morell, Guillem, Rodríguez Palomares, Jose Fernando

المساهمون: Institut Català de la Salut, Carnicer-Cáceres C, Arranz-Amo JA, Cea-Arestin C Laboratori d'Errors Innats del Metabolisme, Laboratoris Clínics, Vall d’Hebron Hospital, Barcelona, Spain. Camprodon-Gomez M Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Moreno-Martinez D Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust and University College London, London WC1E 6BT, UK. Lucas-Del-Pozo S Laboratori de Malalties Neurodegeneratives, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Servei de Neurologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. Moltó-Abad M Validació Funcional i Investigació Preclínica, Distribució de Fàrmacs i Grup d'Orientació, CIBIM-Nanomedicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Networking Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), 08035 Barcelona, Spain. Tigri-Santiña A Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Agraz-Pamplona I Servei de Nefrologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Rodriguez-Palomares JF Servei de Cardiologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Hernández-Vara J, Armengol-Bellapart M Laboratori de Malalties Neurodegeneratives, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Servei de Neurologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Del-Toro-Riera M Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Servei de Neurologia Pediàtrica, Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Pintos-Morell G Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Validació Funcional i Investigació Preclínica, Distribució de Fàrmacs i Grup d'Orientació, CIBIM-Nanomedicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Enzims - Regulació, Marcadors bioquímics, Metabolisme, Errors congènits del - Diagnòstic, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Drug Therapy::Enzyme Therapy::Enzyme Replacement Therapy, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Genetic Diseases, X-Linked::Congenital, Inborn::Congenital, Inborn::Fabry Disease, Other subheadings::Other subheadings::/diagnosis, CHEMICALS AND DRUGS::Biological Factors::Biomarkers, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades genéticas ligadas al cromosoma X::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedad de Fabry, Otros calificadores::Otros calificadores::/diagnóstico, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::farmacoterapia::terapia enzimática::tratamiento de sustitución enzimática, COMPUESTOS QUÍMICOS Y DROGAS::factores biológicos::biomarcadores

وصف الملف: application/pdf

Relation: Journal of Clinical Medicine;10(8); https://doi.org/10.3390/jcm10081664; Carnicer-Cáceres C, Arranz-Amo JA, Cea-Arestin C, Camprodon-Gomez M, Moreno-Martinez D, Lucas-Del-Pozo S, et al. Biomarkers in Fabry Disease: Implications for Clinical Diagnosis and Follow-up. J Clin Med. 2021 Apr 13;10(8):1664.; https://hdl.handle.net/11351/6740; 000644476500001

الاتاحة: https://hdl.handle.net/11351/6740
https://doi.org/10.3390/jcm10081664

المؤلفون: Diaz Riascos, Zamira Vanessa, Corchero Nieto, José Luis, González Callejo, Patricia, Garcia Aranda, Natalia, Mandaña Solé, Mònica, BOULLOSA GOBERNA, ANA MARIA, Mancilla-Zamora, Sandra, Grayston, Alba, Moltó Abad, Marc, Pintos-Morell, Guillem, Rosell Novel, Anna, Schwartz Navarro, Simon, Abasolo, Ibane, Seras-Franzoso, Joaquin

المساهمون: Institut Català de la Salut, Seras-Franzoso J, González P, Schwartz S Jr Drug Delivery & Targeting, CIBBIM-Nanomedicine, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Networking Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Barcelona, Spain. Díaz-Riascos ZV, García-Aranda N, Mandaña M, Boullosa A, Mancilla S, Abasolo I Drug Delivery & Targeting, CIBBIM-Nanomedicine, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Networking Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Barcelona, Spain. Functional Validation & Preclinical Research (FVPR), CIBBIM-Nanomedicine, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Corchero JL Networking Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Barcelona, Spain. Institut de Biotecnologia i de Biomedicina (IBB) and Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra, Spain. Grayston A, Rosell A Neurovascular Research Laboratory, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Moltó-Abad M, Pintos-Morell G Drug Delivery & Targeting, CIBBIM-Nanomedicine, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Division of Rare Diseases, Reference Center for Hereditary Metabolic Disorders (CSUR, XUEC, MetabERN, and CIBER-ER). Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Metabolisme - Trastorns, Enzims extracel·lulars - Ús terapèutic, DISEASES::Nutritional and Metabolic Diseases::Metabolic Diseases::Metabolism, Inborn Errors::Lysosomal Storage Diseases, ANATOMY::Cells::Cellular Structures::Extracellular Space::Extracellular Vesicles, Other subheadings::Other subheadings::Other subheadings::Other subheadings::/enzymology, ENFERMEDADES::enfermedades nutricionales y metabólicas::enfermedades metabólicas::alteraciones congénitas del metabolismo::enfermedades por almacenamiento lisosómico, ANATOMÍA::células::estructuras celulares::espacio extracelular::vesículas extracelulares, Otros calificadores::Otros calificadores::Otros calificadores::Otros calificadores::/enzimología

وصف الملف: application/pdf

Relation: Journal of Extracellular Vesicles;10(5); info:eu-repo/grantAgreement/ES/PE2013-2016/PI18%2F00871; Seras‐Franzoso J, Díaz‐Riascos ZV, Corchero JL, González P, García‐Aranda N, Mandaña M, et al. Extracellular vesicles from recombinant cell factories improve the activity and efficacy of enzymes defective in lysosomal storage disorders. J Extracell Vesicles. 2021 Mar;10(5):e12058.; https://hdl.handle.net/11351/6205; 000632839300005

الاتاحة: https://hdl.handle.net/11351/6205
https://doi.org/10.1002/jev2.12058

المؤلفون: Quijada-Fraile, Pilar, Arranz Canales, Elena, Martín-Hernández, Elena, Ballesta-Martínez, María Juliana, Guillén-Navarro, Encarna, Pintos-Morell, Guillem, Moltó-Abad, Marc, Moreno-Martínez, David, García Morillo, Salvador, Blasco-Alonso, Javier, Couce, María Luz, Gil Sánchez, Ricardo, Cortès-Saladelafont, Elisenda, López Rodríguez, Mónica A., García-Silva, María Teresa, Morales Conejo, Montserrat

المساهمون: BioMarin Pharmaceuticals España SL

المصدر: Orphanet Journal of Rare Diseases ; volume 16, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-021-02074-y
https://link.springer.com/content/pdf/10.1186/s13023-021-02074-y.pdf
https://link.springer.com/article/10.1186/s13023-021-02074-y/fulltext.html

المؤلفون: Ballester López, Alfonsina, Linares Pardo, Ian, Koehorst, Emma, Núñez Manchón, Judit, Pintos Morell, Guillem, Coll Cantí, Jaume, Almendrote, Miriam, Lucente, Giuseppe, Lucía Mulas, Alejandro, Nogales-Gadea, Gisela

مصطلحات موضوعية: Genética humana, Bioquímica

Relation: Ballester-López, A., Linares-Pardo, I., Koehorst, E., Núñez-Manchón, J., Pintos-Morell, G., Coll-Cantí, J., Almendrote, M., Lucente, G., Arbex, A., Magaña, J. J., Murillo-Melo, N. M., Lucía, A., Monckton, D. G., Cumming, S. A., Ramos-Fransi, A., Martínez-Piñeiro, A., & Nogales-Gadea, G. (2020). The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1. Genes, 11(7), 757. https://doi.org/10.3390/genes11070757; http://hdl.handle.net/11268/9155

الاتاحة: http://hdl.handle.net/11268/9155
https://doi.org/10.3390/genes11070757

المؤلفون: Ballester-Lopez, Alfonsina, Koehorst, Emma, Linares-Pardo, Ian, Núñez-Manchón, Judit, Almendrote, Miriam, Lucente, Giuseppe, Arbex, Andrea, Puente, Carles Puente, Lucia, Alejandro, Monckton, Darren G., Cumming, Sarah A., Pintos-Morell, Guillem, Coll-Cantí, Jaume, Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Nogales-Gadea, Gisela

وصف الملف: text

Relation: http://eprints.gla.ac.uk/229318/1/229318.pdf; Ballester-Lopez, A. et al. (2020) Preliminary findings on CTG expansion determination in different tissues from patients with myotonic dystrophy type 1. Genes , 11(11), 1321. (doi:10.3390/genes11111321 ) (PMID:33171734) (PMCID:PMC7695006)

الاتاحة: http://eprints.gla.ac.uk/229318/
http://eprints.gla.ac.uk/229318/1/229318.pdf

المؤلفون: Ballester-Lopez, Alfonsina, Linares-Pardo, Ian, Koehorst, Emma, Núñez-Manchón, Judit, Pintos-Morell, Guillem, Coll-Cantí, Jaume, Almendrote, Miriam, Lucente, Giuseppe, Arbex, Andrea, Magaña, Jonathan J., Murillo-Melo, Nadia M., Lucia, Alejandro, Monckton, Darren, Cumming, Sarah A., Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Nogales-Gadea, Gisela

وصف الملف: text

Relation: http://eprints.gla.ac.uk/219645/1/219645.pdf; Ballester-Lopez, A. et al. (2020) The need for establishing a universal CTG sizing method in myotonic dystrophy type 1. Genes , 11(7), 757. (doi:10.3390/genes11070757 ) (PMID:32645888)

الاتاحة: http://eprints.gla.ac.uk/219645/
http://eprints.gla.ac.uk/219645/1/219645.pdf

المؤلفون: Parini, Rossella, Pintos-Morell, Guillem, Hennermann, Julia B., Hsu, Ting-Rong, Karabul, Nesrin, Kalampoki, Vasiliki, Gurevich, Andrey, Ramaswami, Uma, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Agalsidase alfa, Fabry disease, Enzyme replacement therapy, Fabry Outcome Survey, Estimated glomerular filtration rate, Left ventricular hypertrophy

وصف الملف: application/pdf

Relation: Drug Design, Development and Therapy; Vol. 14 (june 2020), p. 2149-2158; https://ddd.uab.cat/record/252702; urn:10.2147/DDDT.S249433; urn:oai:ddd.uab.cat:252702; urn:pmcid:PMC7276893; urn:pmc-uid:7276893; urn:pmid:32581513; urn:oai:pubmedcentral.nih.gov:7276893; urn:articleid:11778881v14p2149; urn:oai:egreta.uab.cat:publications/26da13db-4c72-4df6-a99a-a8c2008dcd26

الاتاحة: https://ddd.uab.cat/record/252702

المؤلفون: Ballester-Lopez, Alfonsina, Núñez-Manchón, Judit, Koehorst, Emma, Linares-Pardo, Ian, Almendrote, Míriam, Lucente, Giuseppe, Guanyabens i Giral, Nicolau, Lopez-Osias, Marta, Suárez-Mesa, Adrián, Hanick, Shaliza Ann, Chojnacki, Jakub, Lucia, Alejandro, Pintos-Morell, Guillem, Coll-Cantí, Jaume, Martínez-Piñeiro, Alicia, Ramos-Fransi, Alba, Nogales, Gisela, Universitat Autònoma de Barcelona

وصف الملف: application/pdf

Relation: Instituto de Salud Carlos III PI15-01756; Instituto de Salud Carlos III PI15-00558; Instituto de Salud Carlos III PI18-00713; Instituto de Salud Carlos III CD14-00032; Instituto de Salud Carlos III CPII19-00021; Instituto de Salud Carlos III CM16-00016; Agència de Gestió d'Ajuts Universitaris i de Recerca FI_B 01090; Agència de Gestió d'Ajuts Universitaris i de Recerca SGR1520(GRC); European Commission 793830; Neurology: Genetics; Vol. 6 (july 2020); https://ddd.uab.cat/record/231258; urn:10.1212/NXG.0000000000000484; urn:oai:ddd.uab.cat:231258; urn:pmcid:PMC7413607; urn:pmc-uid:7413607; urn:pmid:32802949; urn:oai:pubmedcentral.nih.gov:7413607; urn:oai:egreta.uab.cat:publications/4c570949-0785-4a96-891d-822114fbfffd

الاتاحة: https://ddd.uab.cat/record/231258

المؤلفون: Jönsson, Åsa Lina M, Bendstrup, Elisabeth, Mogensen, Susie, Kopras, Elizabeth J, McCormack, Francis X, Campo, Ilaria, Mariani, Francesca, Escribano-Montaner, Amparo, Holm, Are M, Martinez-Colls, Maria Del Mar, Pintos-Morell, Guillem, Taillé, Camille, Crestani, Bruno, Hilberg, Ole, Hvarregaard Christensen, Jane, Simonsen, Ulf

المصدر: Jönsson , Å L M , Bendstrup , E , Mogensen , S , Kopras , E J , McCormack , F X , Campo , I , Mariani , F , Escribano-Montaner , A , Holm , A M , Martinez-Colls , M D M , Pintos-Morell , G , Taillé , C , Crestani , B , Hilberg , O , Hvarregaard Christensen , J & Simonsen , U 2020 , ' Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis ' , European Respiratory Journal , vol. 55 , no. 2 . https://doi.org/10.1183/13993003.00806-2019

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/a2e50096-47f3-4812-b320-f0d4971b5585
https://doi.org/10.1183/13993003.00806-2019
https://findresearcher.sdu.dk/ws/files/161754488/13993003.00806_2019.full.pdf

المؤلفون: Ballester-Lopez, Alfonsina, Núñez-Manchón, Judit, Koehorst, Emma, Linares-Pardo, Ian, Almendrote, Miriam, Lucente, Giuseppe, Guanyabens, Nicolau, Lopez-Osias, Marta, Suárez-Mesa, Adrián, Hanick, Shaliza Ann, Chojnacki, Jakub, Lucia, Alejandro, Pintos-Morell, Guillem, Coll-Cantí, Jaume, Martínez-Piñeiro, Alicia, Ramos-Fransi, Alba, Nogales-Gadea, Gisela

المصدر: Neurology Genetics ; volume 6, issue 4 ; ISSN 2376-7839

الاتاحة: http://dx.doi.org/10.1212/nxg.0000000000000484
https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000000484

المؤلفون: Ramaswami, Uma, Beck, Michael, Hughes, D., Kampmann, C., Botha, J., Pintos-Morell, Guillem, West, M. L., Niu, D. M., Nicholls, K., Giugliani, R., Universitat Autònoma de Barcelona

مصطلحات موضوعية: Cardio-renal outcomes, Agalsidase alfa, Fabry disease, Enzyme replacement therapy

وصف الملف: application/pdf

Relation: Drug Design, Development and Therapy; Vol. 13 (2019), p. 3705-3715; https://ddd.uab.cat/record/223995; urn:10.2147/DDDT.S207856; urn:oai:ddd.uab.cat:223995; urn:scopus_id:85075481040; urn:articleid:11778881v13p3705; urn:pmid:31749608; urn:pmc-uid:6819672; urn:pmcid:PMC6819672; urn:oai:pubmedcentral.nih.gov:6819672; urn:oai:egreta.uab.cat:publications/276e9897-6996-4c9d-873a-f5071e651781

الاتاحة: https://ddd.uab.cat/record/223995