المؤلفون: Ravi Vijapurapu, Derralynn A Hughes, Tarekegn Geberhiwot, Richard Paul Steeds, Dipak Kotecha, Adrian Warfield, James Moon, Peter Woolfson, Polyvios Demetriades, Ashwin Roy, Joseph de Bono

المصدر: Open Heart, Vol 10, Iss 2 (2023)

مصطلحات موضوعية: Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://openheart.bmj.com/content/10/2/e002316.full; https://doaj.org/toc/2053-3624

URL الوصول: https://doaj.org/article/6a90249d909e4e9c86a9de32ffb8410f

المؤلفون: Derralynn A Hughes, Raphael Schiffmann, Ales Linhart, Patricio Aguiar, Patrick B Deegan, Fatih Ezgu, Andrea Frustaci, Olivier Lidove, Jean-Claude Lubanda, Kathleen Nicholls, Dau-Ming Niu, Uma Ramaswami, Ricardo Reisin, Paula Rozenfeld, Einar Svarstad, Roser Torra, Bojan Vujkovac, Michael L West, Jack Johnson, Mark J Rolfe

المصدر: BMJ Open, Vol 10, Iss 10 (2020)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://bmjopen.bmj.com/content/10/10/e035182.full; https://doaj.org/toc/2044-6055

URL الوصول: https://doaj.org/article/d715f78e37c54b91a11df4c1b094fbaf

المؤلفون: Maarten Arends, Marieke Biegstraaten, Derralynn A Hughes, Atul Mehta, Perry M Elliott, Daniel Oder, Oliver T Watkinson, Frédéric M Vaz, André B P van Kuilenburg, Christoph Wanner, Carla E M Hollak

المصدر: PLoS ONE, Vol 12, Iss 8, p e0182379 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5538714?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/ea56d1ada2864a8fb3f8dce736ad5be2

المؤلفون: Laura L Kilarski, Loes C A Rutten-Jacobs, Steve Bevan, Rob Baker, Ahamad Hassan, Derralynn A Hughes, Hugh S Markus, UK Young Lacunar Stroke DNA Study

المصدر: PLoS ONE, Vol 10, Iss 8, p e0136352 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4549151?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/93e2fa6b5b344e499f237131d719766a

المؤلفون: Brandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, Richie Khanna, Rebecca Soska, Maria Fuller, Sheela A Sitaraman, Dominique P Germain, Roberto Giugliani, Derralynn A Hughes, Atul Mehta, Kathy Nicholls, Pol Boudes, David J Lockhart, Kenneth J Valenzano, Elfrida R Benjamin

المصدر: PLoS ONE, Vol 8, Iss 3, p e57631 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3589404?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/b1ae5dbd0fb74b4bbf482e8731fdda6c

المؤلفون: Andreas D Kistler, Justyna Siwy, Frank Breunig, Praveen Jeevaratnam, Alexander Scherl, William Mullen, David G Warnock, Christoph Wanner, Derralynn A Hughes, Harald Mischak, Rudolf P Wüthrich, Andreas L Serra

المصدر: PLoS ONE, Vol 6, Iss 6, p e20534 (2011)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/4596ac9f92c4499ea0df20e143c39816

المؤلفون: Derralynn A. Hughes, Patrick Deegan, Pilar Giraldo, Özlem Göker-Alpan, Heather Lau, Elena Lukina, Shoshana Revel-Vilk, Maurizio Scarpa, Jaco Botha, Noga Gadir, Ari Zimran

المصدر: Journal of Clinical Medicine, Vol 11, Iss 17, p 5158 (2022)

مصطلحات موضوعية: Gaucher disease, enzyme replacement therapy, substrate reduction therapy, treatment switch, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2077-0383/11/17/5158; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/9abc3e430bf04501a12e808803fd874b

المؤلفون: Derralynn A Hughes, Francesca Ferrante

المصدر: Future Rare Diseases. 3

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::505d93cae310242647587d4227f0056a
https://doi.org/10.2217/frd-2022-0019

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

المساهمون: Institut Català de la Salut, [Beck M] SphinCS GmbH, Institute Clinical Science LSD, Hochheim, Germany. [Ramaswami U, Hughes DA] Lysosomal Disorders Unit, Institute of Immunity and Transplantation, Royal Free London NHS Foundation Trust, University College London, London, UK. [Hernberg-Ståhl E] Late Phase Solutions Europe AB, Täby, Sweden. [Kampmann C] Johannes Gutenberg School of Medicine, University of Mainz, Mainz, Germany. [Mehta AB] Department of Haematology, University College London, London, UK. [Pintos-Morell G] Reference Centre for Hereditary Metabolic Disorders (MetabERN), Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

مصطلحات موضوعية: Cardiovascular outcomes, técnicas de investigación::métodos epidemiológicos::recopilación de datos::sistema de registros [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Terapia de reposição de enzimas, Otros calificadores::Otros calificadores::/farmacoterapia [Otros calificadores], Metabolisme - Trastorns - Tractament, enfermedades nutricionales y metabólicas::enfermedades metabólicas::enfermedades nutricionales y metabólicas::enfermedades metabólicas::trastornos del metabolismo de los lípidos::lipidosis::esfingolipidosis::enfermedades nutricionales y metabólicas::enfermedades metabólicas::enfermedades nutricionales y metabólicas::enfermedades metabólicas::enfermedades nutricionales y metabólicas::enfermedades metabólicas::enfermedad de Fabry [ENFERMEDADES], Doenças por armazenamento dos lisossomos, Other subheadings::Other subheadings::/drug therapy [Other subheadings], Doença de Fabry, Rare Diseases, Nutritional and Metabolic Diseases::Metabolic Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Lipid Metabolism Disorders::Lipidoses::Sphingolipidoses::Nutritional and Metabolic Diseases::Metabolic Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Fabry Disease [DISEASES], Humans, Multicenter Studies as Topic, Enzyme Replacement Therapy, Pharmacology (medical), Registries, Malalties rares - Tractament, terapéutica::farmacoterapia::terapia enzimática::tratamiento de sustitución enzimática [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Child, Agalsidase alfa, Genetics (clinical), Aged, Fabry disease, Enzims - Ús terapèutic, General Medicine, Renal outcomes, Investigative Techniques::Epidemiologic Methods::Data Collection::Registries [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Recombinant Proteins, Treatment Outcome, alpha-Galactosidase, Enzyme replacement therapy, Fabry Disease, Female, Therapeutics::Drug Therapy::Enzyme Therapy::Enzyme Replacement Therapy [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7448f1ad752c81b15061be3402c9f04f
https://hdl.handle.net/11351/8115

المؤلفون: Derralynn A Hughes, Daniel G Bichet, Roberto Giugliani, Robert J Hopkin, Eva Krusinska, Kathleen Nicholls, Iacopo Olivotto, Ulla Feldt-Rasmussen, Norio Sakai, Nina Skuban, Gere Sunder-Plassmann, Roser Torra, William R Wilcox

المصدر: Journal of medical genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7061d152fc966286e3389827aa7a7d43
https://pubmed.ncbi.nlm.nih.gov/36543533