Zobrazeno 1 - 10
of 861
pro vyhledávání: '"Gyrate Atrophy"'
Autor:
Merino Diez MT; Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain., Soria Prada C; Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain., Zamorano Aleixandre M; Hospital Universitario de Guadalajara, Guadalajara, Spain., Gonzalez-Lopez JJ; Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain. Electronic address: juliojose.gonzalez@live.com.
Publikováno v:
Archivos de la Sociedad Espanola de Oftalmologia [Arch Soc Esp Oftalmol (Engl Ed)] 2024 Sep; Vol. 99 (9), pp. 392-399. Date of Electronic Publication: 2024 Apr 23.
Autor:
Balfoort BM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Pampalone G; Department of Medicine and Surgery, University of Perugia, Perugia, Italy., Ruiter JPN; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Denis SW; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Brands MM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Timmer C; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Wagenmakers MAEM; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Wanders RJA; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., van Karnebeek CD; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Cellini B; Department of Medicine and Surgery, University of Perugia, Perugia, Italy., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands. Electronic address: s.ferdinandusse@amsterdamumc.nl.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108542. Date of Electronic Publication: 2024 Jul 19.
Autor:
Sen A, Desai J, Sharma S, Thounaojam S, Kala U, Majumdar B, Pradhan A, Chowdhury R, Chattree S, Saurabh K, Roy R
Publikováno v:
Ophthalmic surgery, lasers & imaging retina [Ophthalmic Surg Lasers Imaging Retina] 2024 Oct; Vol. 55 (10), pp. 598-602. Date of Electronic Publication: 2024 Jul 01.
Autor:
Ju Y; Eye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China.; NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China.; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China., Zong Y; Eye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China.; NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China.; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China., Li X; Eye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China.; NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China.; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China., Gao F; Eye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China.; NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China.; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China., Chang Q; Eye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China.; NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China.; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China., Huang X; Eye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China.; NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China.; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China.
Publikováno v:
Genes [Genes (Basel)] 2024 Aug 02; Vol. 15 (8). Date of Electronic Publication: 2024 Aug 02.
Autor:
Pampalone G; Department of Medicine and Surgery, University of Perugia, P.le L. Severi 1, 06132 Perugia, Italy., Chiasserini D; Department of Medicine and Surgery, University of Perugia, P.le L. Severi 1, 06132 Perugia, Italy., Pierigè F; Department of Biomolecular Sciences, University of Urbino Carlo Bo, 61029 Urbino, Italy., Camaioni E; Department of Pharmaceutical Sciences, University of Perugia, Via del Liceo 1, 06122 Perugia, Italy., Orvietani PL; Department of Medicine and Surgery, University of Perugia, P.le L. Severi 1, 06132 Perugia, Italy., Bregalda A; Department of Biomolecular Sciences, University of Urbino Carlo Bo, 61029 Urbino, Italy., Menotta M; Department of Biomolecular Sciences, University of Urbino Carlo Bo, 61029 Urbino, Italy., Bellezza I; Department of Medicine and Surgery, University of Perugia, P.le L. Severi 1, 06132 Perugia, Italy., Rossi L; Department of Biomolecular Sciences, University of Urbino Carlo Bo, 61029 Urbino, Italy., Cellini B; Department of Medicine and Surgery, University of Perugia, P.le L. Severi 1, 06132 Perugia, Italy., Magnani M; Department of Biomolecular Sciences, University of Urbino Carlo Bo, 61029 Urbino, Italy.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Jul 19; Vol. 25 (14). Date of Electronic Publication: 2024 Jul 19.
Autor:
Pauleikhoff L; Eye Center, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands., Weisschuh N; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Lentzsch A; Department of Ophthalmology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Spital G; St. Franziskus Eye Center, Münster, Germany., Krohne TU; Department of Ophthalmology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Agostini H; Eye Center, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Lange CAK; St. Franziskus Eye Center, Münster, Germany.
Publikováno v:
European journal of ophthalmology [Eur J Ophthalmol] 2024 Jan; Vol. 34 (1), pp. 79-88. Date of Electronic Publication: 2023 May 23.
Autor:
Bergen AA; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands., Buijs MJ; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands., Ten Asbroek AL; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands., Balfoort BM; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands., Boon CJ; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; Department of Ophthalmology, Leiden UMC, Leiden, the Netherlands., Brands MM; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands., Wanders RJ; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands., van Karnebeek CD; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands., Houtkooper RH; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands. r.h.houtkooper@amsterdamumc.nl.; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands. r.h.houtkooper@amsterdamumc.nl.
Publikováno v:
EMBO molecular medicine [EMBO Mol Med] 2024 Jan; Vol. 16 (1), pp. 4-7. Date of Electronic Publication: 2023 Dec 14.
Autor:
Boffa I; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Brunetti-Pierri N; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy. brunetti@tigem.it.; Department of Translational Medicine, 'Federico II' University, Naples, Italy. brunetti@tigem.it.; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy. brunetti@tigem.it.
Publikováno v:
EMBO molecular medicine [EMBO Mol Med] 2024 Jan; Vol. 16 (1), pp. 8-9. Date of Electronic Publication: 2023 Dec 14.
Autor:
Palmer E; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Stepien KM; Adult Inherited Metabolic Disorders, Salford Royal NHS Foundation Trust, Salford, Greater Manchester, UK.; Division of Diabetes, Endocrinology and Gastroenterology, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Campbell C; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Barton S; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Iosifidis C; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Ghosh A; Willink Biochemical Genetics, Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Broomfield A; Willink Biochemical Genetics, Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Woodall A; Adult Inherited Metabolic Disorders, Salford Royal NHS Foundation Trust, Salford, Greater Manchester, UK.; Division of Diabetes, Endocrinology and Gastroenterology, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Wilcox G; Adult Inherited Metabolic Disorders, Salford Royal NHS Foundation Trust, Salford, Greater Manchester, UK.; Division of Diabetes, Endocrinology and Gastroenterology, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Sergouniotis PI; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk., Black GC; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK. graeme.black@manchester.ac.uk.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK. graeme.black@manchester.ac.uk.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. graeme.black@manchester.ac.uk.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Sep 04; Vol. 18 (1), pp. 265. Date of Electronic Publication: 2023 Sep 04.
Autor:
Schultink P; VKS: Dutch Patient Organization for (Inherited) Metabolic Diseases, Zwolle, Netherlands.; Bird's Eye View on Gyrate Atrophy Consortium, Amsterdam, Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Sep; Vol. 46 (5), pp. 761-762. Date of Electronic Publication: 2023 Jul 10.