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The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear.

Ayumi Takamura, Norio Sakai, Michiko Shinpoo, Atsuko Noguchi, Tsutomu Takahashi, Shin Matsuda, Masanari Yamamoto, Aya Narita, Kosaku Ohno, Toya Ohashi, Hiroyuki Ida, Yoshikatsu Eto
Molecular Genetics and Metabolism 2013 November
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.

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