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Neuropsychological profile of adult patients with Niemann–Pick C1 (NPC1) mutations

✍ Scribed by B. Klarner; H. H. Klünemann; R. Lürding; C. Aslanidis; R. Rupprecht

Publisher: Springer
Year: 2006
Tongue: English
Weight: 361 KB
Volume: 30
Category: Article
ISSN: 0141-8955
DOI: 10.1007/s10545-006-0417-6

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## Abstract Niemann Pick type C (NPC) disease is an autosomal recessive disorder characterized by abnormal cholesterol metabolism and accumulation in lysosomal and endosomal compartments. Although peripheral organs are affected, the progressive neurodegeneration in the brain is typically most delet