Zobrazeno 1 - 10
of 768
pro vyhledávání: '"Tøndel C"'
Autor:
Holida M; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA., Linhart A; Charles University, General University Hospital, Prague, Czech Republic., Pisani A; Department of Public Health, University Federico II of Naples, Naples, Italy., Longo N; Pediatrics Medical Genetics, University of Utah, Salt Lake City, Utah, USA., Eyskens F; Antwerp University Hospital UZA, Edegem, Belgium., Goker-Alpan O; Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, Virginia, USA., Wallace E; University of Alabama at Birmingham, Birmingham, Alabama, USA., Deegan P; Lysosomal Disorders Unit, Cambridge University Hospitals NHS Foundation Trust and University of Cambridge, Cambridge, UK., Tøndel C; University of Bergen and Haukeland University Hospital, Bergen, Norway., Feldt-Rasmussen U; Department of Endocrinology and Metabolism, Rigshospitalet and Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark., Hughes D; LSDU, Royal Free London NHS Foundation Trust, and University College London, London, UK., Sakov A; DataSights Ltd, Haifa, Israel., Rocco R; Chiesi Farmaceutici S.p.A, Parma, Italy., Almon EB; Department of Product Development, Protalix Biotherapeutics, Carmiel, Israel., Alon S; Department of Product Development, Protalix Biotherapeutics, Carmiel, Israel., Chertkoff R; Department of Product Development, Protalix Biotherapeutics, Carmiel, Israel., Warnock DG; University of Alabama at Birmingham, Birmingham, Alabama, USA., Waldek S; University of Sunderland, Sunderland, UK., Wilcox WR; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Bernat JA; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Oct 09. Date of Electronic Publication: 2024 Oct 09.
Autor:
Bredholt G; Department of Clinical Science, University of Bergen, Bergen, Norway.; Influenza Centre, Department of Clinical Science, University of Bergen, Bergen, Norway., Sævik M; Department of Medicine, Haukeland University Hospital, Bergen, Norway., Søyland H; Department of Medicine, Haukeland University Hospital, Bergen, Norway., Ueland T; Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Research Institute of Internal Medicine, Oslo University Hospital Rikshospitalet, Oslo, Norway., Zhou F; Influenza Centre, Department of Clinical Science, University of Bergen, Bergen, Norway., Pathirana R; Influenza Centre, Department of Clinical Science, University of Bergen, Bergen, Norway., Madsen A; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Microbiology, Haukeland University Hospital, Bergen, Norway., Vahokoski J; Influenza Centre, Department of Clinical Science, University of Bergen, Bergen, Norway., Lartey S; Influenza Centre, Department of Clinical Science, University of Bergen, Bergen, Norway., Halvorsen BE; Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Research Institute of Internal Medicine, Oslo University Hospital Rikshospitalet, Oslo, Norway., Dahl TB; Research Institute of Internal Medicine, Oslo University Hospital Rikshospitalet, Oslo, Norway., Trieu MC; Influenza Centre, Department of Clinical Science, University of Bergen, Bergen, Norway., Mohn KG; Influenza Centre, Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Medicine, Haukeland University Hospital, Bergen, Norway., Brokstad KA; Influenza Centre, Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Safety, Chemistry and Biomedical Laboratory Sciences, Western Norway University of Applied Sciences, Bergen, Norway., Aukrust P; Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Research Institute of Internal Medicine, Oslo University Hospital Rikshospitalet, Oslo, Norway.; Section of Clinical Immunology and Infectious Diseases, Oslo University Hospital, Oslo, Norway., Tøndel C; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Pediatrics, Haukeland University Hospital, Bergen, Norway., Langeland N; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Medicine, Haukeland University Hospital, Bergen, Norway.; National Centre for Tropical Infectious Diseases, Department of Medicine, Haukeland University Hospital, Bergen, Norway., Blomberg B; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Medicine, Haukeland University Hospital, Bergen, Norway.; National Centre for Tropical Infectious Diseases, Department of Medicine, Haukeland University Hospital, Bergen, Norway., Cox RJ; Influenza Centre, Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Microbiology, Haukeland University Hospital, Bergen, Norway.
Publikováno v:
Vaccine: X [Vaccine X] 2024 Sep 25; Vol. 20, pp. 100564. Date of Electronic Publication: 2024 Sep 25 (Print Publication: 2024).
Autor:
Wallace EL; Department of Medicine, Division of Nephrology, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Goker-Alpan O; Lysosomal and Rare Disorders Research and Treatment Center, Inc, Fairfax, Virginia, USA., Wilcox WR; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Holida M; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Bernat J; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Longo N; Department of Pediatrics, Division of Medical Genetics, University of Utah Health, Salt Lake City, Utah, USA., Linhart A; Department of Internal Medicine, School of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Hughes DA; Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust and University College London, London, UK., Hopkin RJ; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Tøndel C; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Pediatrics, Haukeland University Hospital, Bergen, Norway., Langeveld M; Academisch Medisch Centrum Universiteit van Amsterdam, Amsterdam, The Netherlands., Giraldo P; Unidad de Investigación Traslacional. Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón (IIS Aragón), Zaragoza, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII), Zaragoza, Spain., Pisani A; Department of Public Health, Universita degli Studi di Napoli Federico II, Napoli, Italy., Germain DP; Division of Medical Genetics, University of Versailles, Garches, France., Mehta A; Baylor University Medical Center at Dallas, Dallas, Texas, USA., Deegan PB; Lysosmal Disorders Unit, Department of Medicine, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University Clinical Center, Budapest, Hungary., Ortiz D; Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Jovanovic A; Mark Holland Metabolic Unit, Northern Care Alliance NHS Foundation Trust, Greater Manchester, UK., Muriello M; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Barshop BA; Department of Pediatrics, University of California San Diego, La Jolla, California, USA., Kimonis V; Department of Pediatrics, University of California Irvine, Irvine, California, USA., Vujkovac B; Department of Internal Medicine, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia., Nowak A; Department of Endocrinology and Clinical Nutrition, University Hospital Zurich and University of Zurich, Zurich, Switzerland., Geberhiwot T; Department of Diabetes, Endocrinology and Metabolism, Queen Elizabeth Hospital Birmingham, Birmingham, UK., Kantola I; Division of Medicine, Turku University Hospital, Turku, Finland., Knoll J; Phoenix Children's Hospital, Phoenix, Arizona, USA., Waldek S; University of Sunderland, Sunderland, UK., Nedd K; Infusion Associates, Grand Rapids, Michigan, USA., Karaa A; Massachusetts General Hospital for Children, Boston, Massachusetts, USA., Brill-Almon E; Protalix Biotherapeutics, Carmiel, Israel., Alon S; Product Development, Protalix Biotherapeutics, Carmiel, Israel., Chertkoff R; Protalix Biotherapeutics, Carmiel, Israel., Rocco R; Chiesi Farmaceutici SpA, Parma, Italy., Sakov A; DataSights, Haifa, Israel., Warnock DG; Department of Medicine, Division of Nephrology, The University of Alabama at Birmingham, Birmingham, Alabama, USA dwarnock@uab.edu.
Publikováno v:
Journal of medical genetics [J Med Genet] 2024 May 21; Vol. 61 (6), pp. 520-530. Date of Electronic Publication: 2024 May 21.
Autor:
Smerkous D; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA; Paul G. Allen School of Computer Science and Engineering, University of Washington, Seattle, Washington, USA., Mauer M; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA; Department of Medicine, University of Minnesota, Minneapolis, Minnesota, USA., Tøndel C; Department of Pediatrics, Haukeland University Hospital, Bergen, Norway; Institute of Clinical Medicine, University of Bergen, Bergen, Norway., Svarstad E; Department of Clinical Medicine, University of Bergen, Bergen, Norway., Gubler MC; INSERM U1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France., Nelson RG; Chronic Kidney Disease Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Phoenix, Arizona, USA., Oliveira JP; Service of Medical Genetics, São João University Hospital; Department of Medical Genetics, Faculty of Medicine and i3S-Institute for Research and Innovation in Health, University of Porto, Porto, Portugal., Sargolzaeiaval F; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA., Najafian B; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA. Electronic address: najafian@uw.edu.
Publikováno v:
Kidney international [Kidney Int] 2024 Jan; Vol. 105 (1), pp. 165-176. Date of Electronic Publication: 2023 Sep 27.
Autor:
Bradley JS; Department of Pediatrics, University of California San Diego School of Medicine and Rady Children's Hospital of San Diego, San Diego, CA, USA., Makieieva N; Department of Pediatrics, Kharkiv National Medical University, Kharkiv, Ukraine., Tøndel C; Department of Clinical Science, University of Bergen, and Department of Pediatrics, Haukeland University Hospital, Bergen, Norway., Roilides E; Third Department of Pediatrics, Infectious Diseases Unit, School of Medicine, Aristotle University and Hippokration General Hospital, Thessaloniki, Greece., Kelly MS; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Patel M; Merck & Co. Inc, Rahway, NJ, USA., Vaddady P; Merck & Co. Inc, Rahway, NJ, USA.; Daiichi Sankyo, Inc., Basking Ridge, NJ, USA., Maniar A; Merck & Co. Inc, Rahway, NJ, USA., Zhang Y; Merck & Co. Inc, Rahway, NJ, USA., Paschke A; Merck & Co. Inc, Rahway, NJ, USA., Chen LF; Merck & Co. Inc, Rahway, NJ, USA.
Publikováno v:
Journal of clinical pharmacology [J Clin Pharmacol] 2023 Dec; Vol. 63 (12), pp. 1387-1397. Date of Electronic Publication: 2023 Sep 02.
Autor:
Salvador CL; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway. Electronic address: catsal@ous-hf.no., Flemmen PTK; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Tøndel C; Department of Pediatrics, Haukeland University Hospital, Bergen, Norway; Department of Clinical Science, University of Bergen, Bergen, Norway., Bliksrud YT; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Tsui EFF; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Brun A; Department of Clinical Science, University of Bergen, Bergen, Norway; Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway., Bjerre A; Department of Pediatrics, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway., Mørkrid L; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2023 Nov; Vol. 140 (3), pp. 107649. Date of Electronic Publication: 2023 Jul 05.
Autor:
van der Veen, S. J., Körver, S., Hirsch, A., Hollak, C. E.M., Wijburg, F. A., Brands, M. M., Tøndel, C., van Kuilenburg, A. B.P., Langeveld, M.
Publikováno v:
Molecular genetics and metabolism, 135(2), 163-169. Academic Press Inc.
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, 135(2), 163-169. Academic Press Inc.
van der Veen, S J, Körver, S, Hirsch, A, Hollak, C E M, Wijburg, F A, Brands, M M, Tøndel, C, van Kuilenburg, A B P & Langeveld, M 2022, ' Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression ', Molecular Genetics and Metabolism, vol. 135, no. 2, pp. 163-169 . https://doi.org/10.1016/j.ymgme.2021.12.004
Molecular Genetics and Metabolism, 135(2), 163-169. Academic Press
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, 135(2), 163-169. Academic Press Inc.
van der Veen, S J, Körver, S, Hirsch, A, Hollak, C E M, Wijburg, F A, Brands, M M, Tøndel, C, van Kuilenburg, A B P & Langeveld, M 2022, ' Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression ', Molecular Genetics and Metabolism, vol. 135, no. 2, pp. 163-169 . https://doi.org/10.1016/j.ymgme.2021.12.004
Molecular Genetics and Metabolism, 135(2), 163-169. Academic Press
Background: Enzyme replacement therapy (ERT) slows disease progression of Fabry disease (FD), especially when initiated before the onset of irreversible organ damage. However, with the clinically asymptomatic progression of renal, cardiac and cerebra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50b9013cb31c9c8dd644d5b8160a7d25
https://pure.amc.nl/en/publications/early-start-of-enzyme-replacement-therapy-in-pediatric-male-patients-with-classical-fabry-disease-is-associated-with-attenuated-disease-progression(bdbf88df-4e36-4fb3-ae7e-f430ff361c95).html
https://pure.amc.nl/en/publications/early-start-of-enzyme-replacement-therapy-in-pediatric-male-patients-with-classical-fabry-disease-is-associated-with-attenuated-disease-progression(bdbf88df-4e36-4fb3-ae7e-f430ff361c95).html
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Akademický článek
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Autor:
Linhart A; 2nd Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08, Prague 2, Czech Republic. ales.linhart@vfn.cz., Dostálová G; 2nd Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08, Prague 2, Czech Republic., Nicholls K; Department of Nephrology, Royal Melbourne Hospital and The University of Melbourne, Parkville, Australia., West ML; Division of Nephrology, Department of Medicine, Dalhousie University, Halifax, NS, Canada., Tøndel C; Department of Clinical Science, University of Bergen, Bergen, Norway.; Nephrology and Rheumatology Unit, Department of Pediatrics, Haukeland University Hospital, Bergen, Norway., Jovanovic A; Department of Inherited Metabolic Disease, Salford Royal, Salford, England, UK., Giraldo P; Centro de Investigación Biomédica en Red de Enfermedades Raras, Hospital de Dia Quiron, Zaragoza, Spain., Vujkovac B; Department of Internal Medicine, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia., Geberhiwot T; Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust and University of Birmingham, Birmingham, England, UK., Brill-Almon E; Protalix Biotherapeutics, Carmiel, Israel., Alon S; Protalix Biotherapeutics, Carmiel, Israel., Chertkoff R; Protalix Biotherapeutics, Carmiel, Israel., Rocco R; Chiesi Farmaceutici S.p.A., Parma, Italy., Hughes D; Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust and University College London, London, England, UK.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 21; Vol. 18 (1), pp. 332. Date of Electronic Publication: 2023 Oct 21.