Article
Early growth and development impairments in patients with ganglioside GM3 synthase deficiency.
Clinical genetics - 1 May 2016
Wang H, Wang A, Wang D, Bright A, Sency V, Zhou A, Xin B
Abstract excerpt
Ganglioside GM3 synthase is a key enzyme involved in the biosynthesis of gangliosides. GM3 synthase deficiency (GSD) causes a complete absence of GM3 and all downstream biosynthetic derivatives. The individuals affected by this disorder manifest severe irritability, intractable seizures and profound intellectual disability. However, we have found that most newborns seem symptom-free for a period of time after...
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