Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Annette L.D. Enriquez"'
Autor:
Yuichiro Yasumoto, Tamotsu Kanzaki, Chihaya Kodama, Shoichiro Nakao, Aichi Yoshida, Chuwa Tei, Hiromitsu Tanaka, Robert J. Desnick, Christine M. Eng, Annette L.D. Enriquez, Toshihiro Takenaka, Akihiro Tanaka
Publikováno v:
Kidney International. 64:801-807
Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Background Fabry disease is an X-linked recessive lysosomal storage disease resulting from deficient α-galactosidase A (α-Gal A) activi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06422ab9dfac8b030f454ac1f5d6ce8d
https://doi.org/10.1046/j.1523-1755.2003.00160.x
https://doi.org/10.1046/j.1523-1755.2003.00160.x
Publikováno v:
Expert Opinion on Biological Therapy. 3:789-801
Gene therapy has become the next frontier in the treatment and potential cure of many disorders that are refractive to current therapies. The lysosomal storage disorders (LSDs) collectively constitute one of the largest groups of inherited metabolic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c0d5cbadbbfac5c157965d2ff69cc17
https://doi.org/10.1517/14712598.3.5.789
https://doi.org/10.1517/14712598.3.5.789
Fabry Disease: Eighteen Mutations in the α-Galactosidase A Gene Causing the Classic Phenotype. † 599
Publikováno v:
Pediatric Research. 41:102-102
Fabry Disease: Eighteen Mutations in the α-Galactosidase A Gene Causing the Classic Phenotype. † 599
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09d0462ec3c458ebb0003027e74885ba
https://doi.org/10.1203/00006450-199704001-00619
https://doi.org/10.1203/00006450-199704001-00619