- A Case of a Korean Adult Affected by Type B Niemann-Pick Disease: Secondary Sea-blue Histiocytosis and Molecular Characterization
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Cho YU, Chae JD, Lee WM, Woo JJ, Lee HB, Gong SJ, Park CJ, Kim GH, Yoo HW
- KMID: 854963
- Korean J Lab Med.
- 2009 Apr;29(2):97-103.
- doi: 10.3343/kjlm.2009.29.2.97
Niemann-Pick disease (NPD) is an inherited metabolic disorder caused by a deficiency of the enzyme acid sphingomyelinase coded by SMPD1 gene. In contrast with type A NPD, a severe neurodegenerative... -
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