المؤلفون: Pieroni, Maurizio, Moon, James C, Arbustini, Eloisa, Barriales-Villa, Roberto, Camporeale, Antonia, Vujkovac, Andreja Cokan, Elliott, Perry M, Hagege, Albert, Kuusisto, Johanna, Linhart, Aleš, Nordbeck, Peter, Olivotto, Iacopo, Pietilä-Effati, Päivi, Namdar, Mehdi

المصدر: ISSN: 0735-1097 ; Journal of the American College of Cardiology, vol. 77, no. 7 (2021) p. 922-936.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616, Fabry disease, T1 mapping, Hypertrophic cardiomyopathy, Lysosome function, 1-Deoxynojirimycin / analogs & derivatives, 1-Deoxynojirimycin / therapeutic use, Electrocardiography, Enzyme Replacement Therapy, Fabry Disease / complications, Fabry Disease / drug therapy, Heart / diagnostic imaging, Heart Diseases / diagnosis, Heart Diseases / etiology, Humans

Relation: info:eu-repo/semantics/altIdentifier/pmid/33602475; https://archive-ouverte.unige.ch/unige:159967; unige:159967

الاتاحة: https://archive-ouverte.unige.ch/unige:159967

المؤلفون: Seemann, Susanne, Ernst, Mathias, Andreotti, Giuseppina, Cubellis, Maria Vittoria, Fuellen, Georg, Hermann, Andreas, Giese, Anne-Katrin, Rolfs, Arndt, Lukas, Jan, Cimmaruta, Chiara, Struckmann, Stephan, Cozma, Claudia, Koczan, Dirk, Knospe, Anne-Marie, Haake, Linda Rebecca, Citro, Valentina, Bräuer, Anja U

المصدر: The biochemical journal / Reviews 477(2), 359-380 (2020). doi:10.1042/BCJ20190513

مصطلحات موضوعية: info:eu-repo/classification/ddc/540, 1-Deoxynojirimycin: analogs & derivatives, 1-Deoxynojirimycin: therapeutic use, Biomarkers: metabolism, Endoplasmic Reticulum: genetics, Endoplasmic Reticulum: metabolism, Fabry Disease: drug therapy, Fabry Disease: enzymology, Fabry Disease: genetics, Fabry Disease: pathology, Fibroblasts: drug effects, Fibroblasts: metabolism, Gene Expression Regulation, Enzymologic: drug effects, Humans, Lysosomal Storage Diseases: drug therapy, Lysosomal Storage Diseases: enzymology, Lysosomal Storage Diseases: genetics, Lysosomal Storage Diseases: pathology, Lysosomes: enzymology, Lysosomes: genetics, Lysosomes: metabolism, Mutation, Missense: genetics, Proteasome Endopeptidase Complex: genetics, Proteasome Endopeptidase Complex: metabolism, Protein Transport: drug effects, Proteostasis: genetics, Sphingosine: analogs & derivatives, Sphingosine: metabolism

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0264-6021; info:eu-repo/semantics/altIdentifier/issn/0306-3275; info:eu-repo/semantics/altIdentifier/issn/0306-3283; info:eu-repo/semantics/altIdentifier/issn/0006-2936; info:eu-repo/semantics/altIdentifier/issn/1470-8728; info:eu-repo/semantics/altIdentifier/pmid/pmid:31899485; https://pub.dzne.de/record/145175; https://pub.dzne.de/search?p=id:%22DZNE-2020-00533%22

الاتاحة: https://pub.dzne.de/record/145175
https://pub.dzne.de/search?p=id:%22DZNE-2020-00533%22

المؤلفون: Lukas, Jan, Cimmaruta, Chiara, Rolfs, Arndt, Liguori, Ludovica, Pantoom, Supansa, Iwanov, Katharina, Petters, Janine, Hund, Christina, Bunschkowski, Maik, Hermann, Andreas, Cubellis, Maria Vittoria

المصدر: International journal of molecular sciences 21(3), 956 (2020). doi:10.3390/ijms21030956

مصطلحات موضوعية: info:eu-repo/classification/ddc/540, 1-Deoxynojirimycin: analogs & derivatives, 1-Deoxynojirimycin: therapeutic use, Amino Acid Substitution, Biological Assay, Fabry Disease: drug therapy, Fabry Disease: genetics, Fabry Disease: metabolism, HEK293 Cells, Humans, Precision Medicine, Reproducibility of Results, Retrospective Studies, alpha-Galactosidase: genetics, alpha-Galactosidase: metabolism

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:32023956; info:eu-repo/semantics/altIdentifier/issn/1661-6596; info:eu-repo/semantics/altIdentifier/issn/1422-0067; https://pub.dzne.de/record/145126; https://pub.dzne.de/search?p=id:%22DZNE-2020-00485%22

الاتاحة: https://pub.dzne.de/record/145126
https://pub.dzne.de/search?p=id:%22DZNE-2020-00485%22

المؤلفون: Noelker, Carmen, Lu, Lixia, Andreas, Hartmann, Höllerhage, Matthias, Vulinovic, Franca, Sturn, Annekathrin, Roscher, René, Höglinger, Günter U, Hirsch, Etienne C, Oertel, Wolfgang H, Alvarez-Fischer, Daniel

المصدر: Journal of the neurological sciences 356(1-2), 129-136 (2015). doi:10.1016/j.jns.2015.06.030

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, 1-Deoxynojirimycin: analogs & derivatives, 1-Deoxynojirimycin: therapeutic use, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine: pharmacology, Animals, Brain: drug effects, Brain: metabolism, Brain: pathology, Cell Count, Cells, Cultured, Disease Models, Animal, Embryo, Mammalian, Gaucher Disease: drug therapy, Gaucher Disease: etiology, Gaucher Disease: prevention & control, Glycoside Hydrolase Inhibitors: therapeutic use, Histocompatibility Antigens: metabolism, Inositol: analogs & derivatives, Inositol: metabolism, L-Lactate Dehydrogenase: metabolism, Male, Mesencephalon: metabolism, Mice, Inbred C57BL, Mitochondrial Diseases: etiology, Neurons: drug effects, Neurons: metabolism

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1878-5883; info:eu-repo/semantics/altIdentifier/pmid/pmid:26104567; info:eu-repo/semantics/altIdentifier/issn/0022-510X; https://pub.dzne.de/record/138108; https://pub.dzne.de/search?p=id:%22DZNE-2020-04430%22

الاتاحة: https://pub.dzne.de/record/138108
https://pub.dzne.de/search?p=id:%22DZNE-2020-04430%22