Human GM3 synthase deficiency: Autosomal recessive infantile onset symptomatic epilepsy syndrome.

Míreanna comhchosúla

• Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.
  de réir: Simpson, M, et al.
  Foilsithe / Cruthaithe: (2004)
• Human GM3 synthase deficiency: A novel form of hereditary childhood epilepsy
  de réir: Priestman, D, et al.
  Foilsithe / Cruthaithe: (2005)
• Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
  de réir: Harlalka, G, et al.
  Foilsithe / Cruthaithe: (2013)
• Glycosphingolipid profiling of tissues from mouse models of human lysosomal storage disorders
  de réir: Priestman, D, et al.
  Foilsithe / Cruthaithe: (2008)
• Imino sugar therapy for type 1 Gaucher disease.
  de réir: Priestman, D, et al.
  Foilsithe / Cruthaithe: (2000)