Biochemical and physiological improvement in a mouse model of Smith–Lemli–Opitz syndrome (SLOS) following gene transfer with AAV vectors

Smith–Lemli–Opitz syndrome (SLOS) is an inborn error of cholesterol synthesis resulting from a defect in 7-dehydrocholesterol reductase (DHCR7), the enzyme that produces cholesterol from its immediate precursor 7-dehydrocholesterol. Current therapy employing dietary cholesterol is inadequate. As SLO...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Ying, Lee, Matabosch, Xavier, Serra, Montserrat, Watson, Berna, Shackleton, Cedric, Watson, Gordon
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2014
Pynciau:
Research Paper
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4093838/
https://ncbi.nlm.nih.gov/pubmed/25024934
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.02.002
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg