choroba neuroviscerálneho ukladania s vertikálnou supranukleárnou oftalmoplégiou Niemannova-Pickova choroba typu C Niemannova-Pickova choroba, typ D Niemannova-Pickova choroba typu D Niemann-Pickova choroba s blokovaním esterifikácie cholesterolu Neiemann-Pickova choroba bez deficitu sfyngomyelinázy Niemann-Pickova choroba, chronická neuronopatická forma Niemann-Pickova choroba, typ Nové Škótsko Niemann-Pickova choroba, novoškótsky typ Niemann-Pickova choroba, subakútna juvenilná forma Niemann-Pickova choroba typu D, novoškótska forma
English X references
Niemann-Pick Disease Type C Niemann-Pick Disease, Type D Niemann-Pick Type C Disease Niemann-Pick Type D Disease
Scope note in English
An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.
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