المؤلفون: Sanchez-Niño, Maria D, Ceballos, Maria I, Carriazo, Sol, Pintor-Chocano, Aranzazu, Sanz, Ana B, Saleem, Moin A, Ortiz, Alberto

المصدر: Sanchez-Niño , M D , Ceballos , M I , Carriazo , S , Pintor-Chocano , A , Sanz , A B , Saleem , M A & Ortiz , A 2023 , ' Interaction of Fabry Disease and Diabetes Mellitus : Suboptimal Recruitment of Kidney Protective Factors ' , International Journal of Molecular Sciences , vol. 24 , no. 21 . https://doi.org/10.3390/ijms242115853

مصطلحات موضوعية: Humans, Mice, Animals, Fabry Disease/metabolism, Protective Factors, Kidney/metabolism, Kidney Diseases/genetics, Renal Insufficiency/metabolism, Diabetes Mellitus/genetics, Trihexosylceramides/metabolism, alpha-Galactosidase/genetics

Relation: https://research-information.bris.ac.uk/en/publications/ccb4d96a-1b24-46d7-b634-dd9374b860ad

الاتاحة: https://hdl.handle.net/1983/ccb4d96a-1b24-46d7-b634-dd9374b860ad
https://research-information.bris.ac.uk/en/publications/ccb4d96a-1b24-46d7-b634-dd9374b860ad
https://doi.org/10.3390/ijms242115853

المساهمون: College of Medicine, Dept. of Pediatrics, Younhee Ko, CheolHo Lee, Myeong Hee Moon, Geu-Ru Hong, Chong-Kun Cheon, Jin-Sung Lee, Ko, Youn Hee, Lee, Jin Sung, Hong, Geu Ru

مصطلحات موضوعية: Adolescent, Adult, Enzyme Replacement Therapy, Fabry Disease/drug therapy, Fabry Disease/genetics, Fabry Disease/metabolism, Female, Gene Expression Regulation, Gene Regulatory Networks, Humans, Male, Sex Factors, Transcriptome, Young Adult

Relation: JOURNAL OF HUMAN GENETICS; J01446; OAK-2016-01246; https://ir.ymlib.yonsei.ac.kr/handle/22282913/146526; http://www.nature.com/jhg/journal/v61/n2/full/jhg2015123a.html; T201600805; JOURNAL OF HUMAN GENETICS, Vol.61(2) : 143-149, 2016

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/146526
https://doi.org/10.1038/jhg.2015.123
http://www.nature.com/jhg/journal/v61/n2/full/jhg2015123a.html

المؤلفون: Del Tredici, Kelly, Ludolph, Albert C, Feldengut, Simone, Jacob, Christian, Reichmann, Heinz, Bohl, Jürgen R, Braak, Heiko

المصدر: Journal of neuropathology and experimental neurology 79(4), 378-392 (2019). doi:10.1093/jnen/nlz139

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Astrocytes: pathology, Brain: blood supply, Brain: metabolism, Brain: pathology, Fabry Disease: complications, Fabry Disease: metabolism, Fabry Disease: pathology, Humans, Lewy Bodies: metabolism, Lewy Bodies: pathology, Lewy Body Disease: complications, Lewy Body Disease: metabolism, Lewy Body Disease: pathology, Male, Middle Aged, Neurons: metabolism, Neurons: pathology, Trihexosylceramides: metabolism, alpha-Synuclein: metabolism

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1554-6578; info:eu-repo/semantics/altIdentifier/pmid/pmid:32016321; info:eu-repo/semantics/altIdentifier/issn/0022-3069; https://pub.dzne.de/record/151489; https://pub.dzne.de/search?p=id:%22DZNE-2020-01077%22

الاتاحة: https://pub.dzne.de/record/151489
https://pub.dzne.de/search?p=id:%22DZNE-2020-01077%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

المساهمون: Seung Yong Lee, Seung Jung Kim, Jung Il Lee, Eun Sook Kim, Chang Hoon Lee, Jeong Ho Kim, Hyeon Joo Jeong, Sung Kyu Ha, Kim, Jeong Ho

مصطلحات موضوعية: Adult, Fabry Disease/diagnosis, Fabry Disease/metabolism, Fabry Disease/pathology, Humans, Male

Relation: YONSEI MEDICAL JOURNAL; J02813; OAK-1998-01157; https://ir.ymlib.yonsei.ac.kr/handle/22282913/177027; 9529988; T199803016; YONSEI MEDICAL JOURNAL, Vol.39(1) : 67-72, 1998

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/177027
https://doi.org/10.3349/ymj.1998.39.1.67