Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Nataniel F Ludwig"'
Autor:
Nataniel F Ludwig, Fernanda Sperb-Ludwig, Dévora N Randon, Pricila Bernardi, Liane R Giuliani, Carolina A Moreno, Denise P Cavalcanti, Luiz CS da Silva, Ida V D Schwartz
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract GlcNAc-1-phosphotransferase is a hexameric complex formed by subunits α, β, and γ, where the first two are encoded by the GNPTAB gene and the third by the GNPTG gene. Pathogenic variants identified in the GNPTAB gene cause the diseases Mu
Externí odkaz:
https://doaj.org/article/9cd428fcb85c4b70b77dc6bccf2dc9e5
Autor:
Danyukova, Tatyana, Ludwig, Nataniel F., Velho, Renata V., Harms, Frederike L., Güneş, Nilay, Tidow, Henning, Schwartz, Ida V., Tüysüz, Beyhan, Pohl, Sandra
Publikováno v:
Human Mutation; Jan2020, Vol. 41 Issue 1, p133-139, 7p
Autor:
Velho, Renata Voltolini, Harms, Frederike L., Danyukova, Tatyana, Ludwig, Nataniel F., Friez, Michael J., Cathey, Sara S., Filocamo, Mirella, Tappino, Barbara, Güneş, Nilay, Tüysüz, Beyhan, Tylee, Karen L., Brammeier, Kathryn L., Heptinstall, Lesley, Oussoren, Esmee, Ploeg, Ans T., Petersen, Christine, Alves, Sandra, Saavedra, Gloria Durán, Schwartz, Ida V., Muschol, Nicole
Publikováno v:
Human Mutation; Jul2019, Vol. 40 Issue 7, p842-864, 23p