Article
A case report of 'variant' biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options.
Neurologia i neurochirurgia polska - 1 Jan 2000
Jamrozik Zygmunt, Szczudlik Piotr, Lugowska Agnieszka, Weiß Stefan, Rolfs Arndt, Czartoryska Barbara, Kwieciński Hubert
Abstract excerpt
Niemann-Pick disease type C is a rare hereditary disorder caused by mutation-disrupted metabolism of cholesterol and low-density lipoprotein (LDL). In most patients, symptoms begin in childhood with severe clinical progression. We present a patient with heterozygote mutations 3001A>G and 3019C>G...
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