| Literature DB >> 24001525 |
Ayumi Takamura1, Norio Sakai, Michiko Shinpoo, Atsuko Noguchi, Tsutomu Takahashi, Shin Matsuda, Masanari Yamamoto, Aya Narita, Kosaku Ohno, Toya Ohashi, Hiroyuki Ida, Yoshikatsu Eto.
Abstract
Niemann-Pick disease type C (NP-C) is an autosomal recessive lysosomal lipid storage disorder characterized with accumulation of cholesterol in endosomes and lysosomes. The diagnosis of NP-C is difficult due to its heterogeneous group of diseases. Biochemical diagnosis of NP-C is conducted by cholesterol staining with cultured skin fibroblasts and confirmed by the analysis of genetic mutations of NPC1 or NPC2 gene. Here, we report an easier biochemical diagnostic method with blood smear by filipin staining.Entities:
Keywords: Blood smear; Cholesterol; Filipin staining; Lipid raft; Niemann-Pick disease type C
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Year: 2013 PMID： 24001525 DOI： 10.1016/j.ymgme.2013.08.006
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797