Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase-Reference-Cited by-同舟云学术

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase

Published:2004-10-24 Issue:11 Volume:36 Page:1225-1229
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Simpson Michael A,Cross Harold,Proukakis Christos,Priestman David A,Neville David C A,Reinkensmeier Gabriele,Wang Heng,Wiznitzer Max,Gurtz Kay,Verganelaki Argyro,Pryde Anna,Patton Michael A,Dwek Raymond A,Butters Terry D,Platt Frances M,Crosby Andrew H

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1460.pdf

Reference22 articles.

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3. Neville, D.C.A. et al. Analysis of fluorescently labelled glycosphingolipid-derived oligosaccharides following ceramide glycanase digestion and anthranilic acid labelling. Anal. Biochem. 331, 275–282 (2004).

4. Kundu, S.K., Diego, I., Osovitz, S. & Marcus, D.M. Glycosphingolipids of human plasma. Arch. Biochem. Biophys. 238, 388–400 (1985).

5. Senn, H.J. et al. Human serum gangliosides in hypercholesterolemia, before and after extracorporeal elimination of LDL. Atherosclerosis 94, 109–117 (1992).

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