Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Eram Nasser"'
Autor:
Suhail Khoja, Xiao-Bo Liu, Brian Truong, Matthew Nitzahn, Jenna Lambert, Adam Eliav, Eram Nasser, Emma Randolph, Kristine E. Burke, Rebecca White, Xuling Zhu, Paolo G.V. Martini, Itzhak Nissim, Stephen D. Cederbaum, Gerald S. Lipshutz
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 28, Iss , Pp 859-874 (2022)
Arginase deficiency is associated with prominent neuromotor features, including spastic diplegia, clonus, and hyperreflexia; intellectual disability and progressive neurological decline are other signs. In a constitutive murine model, we recently des
Externí odkaz:
https://doaj.org/article/27c6ab38d6da42bdbac80e2bb9c3a868
Autor:
Suhail Khoja, Jenna Lambert, Matthew Nitzahn, Adam Eliav, YuChen Zhang, Mikayla Tamboline, Colleen T. Le, Eram Nasser, Yunfeng Li, Puja Patel, Irina Zhuravka, Lindsay M. Lueptow, Ilona Tkachyova, Shili Xu, Itzhak Nissim, Andreas Schulze, Gerald S. Lipshutz
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 278-296 (2022)
Creatine deficiency disorders are inborn errors of creatine metabolism, an energy homeostasis molecule. One of these, guanidinoacetate N-methyltransferase (GAMT) deficiency, has clinical characteristics that include features of autism, self-mutilatio
Externí odkaz:
https://doaj.org/article/87a7fdb6ecd04a129c24284a36c20cca