Zobrazeno 1 - 10
of 19 729
pro vyhledávání: '"ENZYME REPLACEMENT THERAPY"'
Autor:
Heinrich R; Scientific Institute of Health Economics and Health System Research (WIG2 GmbH), Leipzig, Germany., Claus F; Scientific Institute of Health Economics and Health System Research (WIG2 GmbH), Leipzig, Germany., Schoenfelder T; Scientific Institute of Health Economics and Health System Research (WIG2 GmbH), Leipzig, Germany. tonio.schoenfelder@wig2.de.; Chair Health Sciences-Public Health, Technische Universität Dresden, Dresden, Germany. tonio.schoenfelder@wig2.de.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Dec 16; Vol. 19 (1), pp. 462. Date of Electronic Publication: 2024 Dec 16.
Autor:
Lenders M; Allgemeine Innere Medizin D sowie Nieren- und Hochdruckkrankheiten und Rheumatologie, Interdisziplinäres Fabry Zentrum (IFAZ), Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Deutschland., Brand E; Allgemeine Innere Medizin D sowie Nieren- und Hochdruckkrankheiten und Rheumatologie, Interdisziplinäres Fabry Zentrum (IFAZ), Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Deutschland. Eva.Brand@ukmuenster.de.
Publikováno v:
Innere Medizin (Heidelberg, Germany) [Inn Med (Heidelb)] 2024 Dec; Vol. 65 (12), pp. 1188-1198. Date of Electronic Publication: 2024 Aug 06.
Autor:
Schindeler A; Bioengineering and Molecular Medicine Laboratory, The Children's Hospital at Westmead and Westmead Institute for Medical Research, Westmead, New South Wales, Australia.; Children's Hospital at Westmead Clinical School, University of Sydney, Camperdown, New South Wales, Australia., Ludwig K; Child Health Research Centre and Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.; Department of Endocrinology, Queensland Children's Hospital, Brisbane, Queensland, Australia., Munns CF; Child Health Research Centre and Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.; Department of Endocrinology, Queensland Children's Hospital, Brisbane, Queensland, Australia.
Publikováno v:
Clinical endocrinology [Clin Endocrinol (Oxf)] 2024 Dec; Vol. 101 (6), pp. 593-601. Date of Electronic Publication: 2024 Jul 14.
Autor:
Liu Y; The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, China., Li Y; The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, China., Li P; The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, China., Zhang S; The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, China.; Hebei Key Laboratory of Rare Diseases, Shijiazhuang, 050000, China., Zhiqing Z; The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, China. 26500007@hebmu.edu.cn.; Hebei Key Laboratory of Rare Diseases, Shijiazhuang, 050000, China. 26500007@hebmu.edu.cn.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 11; Vol. 19 (1), pp. 422. Date of Electronic Publication: 2024 Nov 11.
Autor:
George KA; Sanofi, Cambridge, MA, USA. Electronic address: kelly.george@sanofi.com., Anding AL; Sanofi, Cambridge, MA, USA., van der Flier A; Sanofi, Cambridge, MA, USA., Tomassy GS; Sanofi, Cambridge, MA, USA., Berger KI; Sanofi, Cambridge, MA, USA., Zhang TY; Sanofi, Cambridge, MA, USA., Sardi SP; Sanofi, Cambridge, MA, USA.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Nov; Vol. 143 (3), pp. 108590. Date of Electronic Publication: 2024 Oct 11.
Autor:
Philipp TM; Department of Pharmacology, University of Fribourg, Faculty of Science and Medicine, Fribourg, Switzerland., Bottiglieri T; Center of Metabolomics, Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, 75204, USA., Clapper W; Travere Therapeutics, Inc., San Diego, CA, 92130, USA., Liu K; Travere Therapeutics, Inc., San Diego, CA, 92130, USA., Rodems S; Travere Therapeutics, Inc., San Diego, CA, 92130, USA., Szabo C; Department of Pharmacology, University of Fribourg, Faculty of Science and Medicine, Fribourg, Switzerland., Majtan T; Department of Pharmacology, University of Fribourg, Faculty of Science and Medicine, Fribourg, Switzerland. Electronic address: tomas.majtan@unifr.ch.
Publikováno v:
Redox biology [Redox Biol] 2024 Nov; Vol. 77, pp. 103383. Date of Electronic Publication: 2024 Oct 02.
Autor:
Mori-Yoshimura M; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan. Electronic address: yoshimur@ncnp.go.jp., Takizawa H; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan., Unuma A; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan., Oya Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan., Yorimoto K; Department of Physical Rehabilitation, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan. Electronic address: yoooori@ncnp.go.jp., Katsuta W; Department of Physical Rehabilitation, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan., Miyagi K; Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan., Sato N; Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan., Hara T; Department of Physical Rehabilitation, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan., Takahashi Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan.
Publikováno v:
Brain & development [Brain Dev] 2024 Nov; Vol. 46 (10), pp. 320-325. Date of Electronic Publication: 2024 Aug 13.
Autor:
Rintz E; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland. Electronic address: estera.rintz@ug.edu.pl., Ziemian M; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Kobus B; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Gaffke L; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Pierzynowska K; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Wegrzyn G; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Publikováno v:
Biochemical pharmacology [Biochem Pharmacol] 2024 Nov; Vol. 229, pp. 116467. Date of Electronic Publication: 2024 Aug 05.
Autor:
Lerario S; Nephrology, Dialysis, and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Monti L; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Ambrosetti I; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Luglio A; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Pietra A; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Aiello V; Nephrology, Dialysis, and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Montanari F; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Bellasi A; Servizio Di Nefrologia, Ospedale Regionale Di Lugano, Ente Ospedaliero Cantonale, Ospedale CivicoVia Tesserete 46, 6903, Lugano, Switzerland.; Università Della Svizzera Italiana (USI), Lugano, Switzerland., Zaza G; Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, 87036, Rende, CS, Italy., Galante A; Università Della Svizzera Italiana (USI), Lugano, Switzerland., Salera D; Servizio Di Nefrologia, Ospedale Regionale Di Lugano, Ente Ospedaliero Cantonale, Ospedale CivicoVia Tesserete 46, 6903, Lugano, Switzerland., Capelli I; Nephrology, Dialysis, and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy. irene.capelli4@unibo.it., La Manna G; Nephrology, Dialysis, and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy. gaetano.lamanna@unibo.it., Provenzano M; Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, 87036, Rende, CS, Italy.
Publikováno v:
International urology and nephrology [Int Urol Nephrol] 2024 Oct; Vol. 56 (10), pp. 3161-3172. Date of Electronic Publication: 2024 Apr 13.
Autor:
Tomsen-Melero J; Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina, Instituto de Salud Carlos III, Madrid, Spain.; Institut de Ciència de Materials de Barcelona, ICMAB-CSIC, Campus UAB, 08193 Bellaterra, Spain., Moltó-Abad M; Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina, Instituto de Salud Carlos III, Madrid, Spain.; Clinical Biochemistry, Drug Delivery & Targeting (CB-DDT), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Merlo-Mas J; Nanomol Technologies SL, Campus de la UAB, 08193 Bellaterra, Spain., Díaz-Riascos ZV; Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina, Instituto de Salud Carlos III, Madrid, Spain.; Clinical Biochemistry, Drug Delivery & Targeting (CB-DDT), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Functional Validaton & Preclinical Research (FVPR)/U20 ICTS Nanbiosis, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Cristóbal-Lecina E; Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina, Instituto de Salud Carlos III, Madrid, Spain.; Institut de Química Avançada de Catalunya (IQAC-CSIC), c/ Jordi Girona 18-26, 08034 Barcelona, Spain., Soldevila A; Leanbio SL, 08028 Barcelona, Spain., Altendorfer-Kroath T; JOANNEUM RESEARCH-Institute for Biomedical Research and Technologies (HEALTH), Neue Stiftingtalstraße 2, 8010 Graz, Austria., Danino D; Cryo-EM Laboratory of Soft Matter, Faculty of Biotechnology and Food Engineering, Technion-Israel Institute of Technology, 32000 Haifa, Israel.; Cryo-EM and Self-Assembly Laboratory, Guangdong-Technion Israel Institute of Technology, Shantou, China., Ionita I; Cryo-EM Laboratory of Soft Matter, Faculty of Biotechnology and Food Engineering, Technion-Israel Institute of Technology, 32000 Haifa, Israel., Pedersen JS; Department of Chemistry and Interdisciplinary Nanoscience Center (iNANO), Aarhus University, DK-8000 Aarhus C, Denmark., Snelling L; Labcorp Drug Development, Harrogate HG3 IPY, UK., Clay H; Labcorp Drug Development, Harrogate HG3 IPY, UK., Carreño A; Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina, Instituto de Salud Carlos III, Madrid, Spain.; Institut de Ciència de Materials de Barcelona, ICMAB-CSIC, Campus UAB, 08193 Bellaterra, Spain., Corchero JL; Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina, Instituto de Salud Carlos III, Madrid, Spain.; Departament de Genètica i de Microbiologia, Institut de Biotecnologia i de Biomedicina (IBB), Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain., Pulido D; Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina, Instituto de Salud Carlos III, Madrid, Spain.; Institut de Química Avançada de Catalunya (IQAC-CSIC), c/ Jordi Girona 18-26, 08034 Barcelona, Spain., Casas J; Institut de Química Avançada de Catalunya (IQAC-CSIC), c/ Jordi Girona 18-26, 08034 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas, Instituto de Salud Carlos III, Madrid, Spain., Veciana J; Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina, Instituto de Salud Carlos III, Madrid, Spain.; Institut de Ciència de Materials de Barcelona, ICMAB-CSIC, Campus UAB, 08193 Bellaterra, Spain., Simó Schwartz Jr; Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina, Instituto de Salud Carlos III, Madrid, Spain.; Clinical Biochemistry, Drug Delivery & Targeting (CB-DDT), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Servei de Bioquímica, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Sala S; Nanomol Technologies SL, Campus de la UAB, 08193 Bellaterra, Spain., Font A; Leanbio SL, 08028 Barcelona, Spain., Birngruber T; JOANNEUM RESEARCH-Institute for Biomedical Research and Technologies (HEALTH), Neue Stiftingtalstraße 2, 8010 Graz, Austria., Royo M; Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina, Instituto de Salud Carlos III, Madrid, Spain.; Institut de Química Avançada de Catalunya (IQAC-CSIC), c/ Jordi Girona 18-26, 08034 Barcelona, Spain., Córdoba A; Nanomol Technologies SL, Campus de la UAB, 08193 Bellaterra, Spain., Ventosa N; Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina, Instituto de Salud Carlos III, Madrid, Spain.; Institut de Ciència de Materials de Barcelona, ICMAB-CSIC, Campus UAB, 08193 Bellaterra, Spain., Abasolo I; Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina, Instituto de Salud Carlos III, Madrid, Spain.; Clinical Biochemistry, Drug Delivery & Targeting (CB-DDT), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Functional Validaton & Preclinical Research (FVPR)/U20 ICTS Nanbiosis, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Servei de Bioquímica, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., González-Mira E; Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina, Instituto de Salud Carlos III, Madrid, Spain.; Institut de Ciència de Materials de Barcelona, ICMAB-CSIC, Campus UAB, 08193 Bellaterra, Spain.
Publikováno v:
Science advances [Sci Adv] 2024 Dec 13; Vol. 10 (50), pp. eadq4738. Date of Electronic Publication: 2024 Dec 13.