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Imaging Manifestations of Niemann-Pick Disease Type B
被引:21
|作者:
Simpson, William L., Jr.
[1
]
Mendelson, David
[1
]
Wasserstein, Melissa P.
[2
]
McGovern, Margaret M.
[2
]
机构:
[1] Mt Sinai Med Ctr, Dept Radiol, New York, NY 10029 USA
[2] Mt Sinai Med Ctr, Dept Genet & Genom Sci, New York, NY 10029 USA
关键词:
hepatosplenomegaly;
lysosomal storage disease;
Niemann-Pick disease;
pediatrics;
pulmonary;
ACID SPHINGOMYELINASE DEFICIENCY;
INTERMEDIATE PHENOTYPE;
PREVALENCE;
CHILDREN;
D O I:
10.2214/AJR.09.2871
中图分类号:
R8 [特种医学];
R445 [影像诊断学];
学科分类号:
1002 ;
100207 ;
1009 ;
摘要:
OBJECTIVE. The purpose of this article is to illustrate the various imaging manifestations of Niemann-Pick disease type B using various imaging techniques emphasizing cross-sectional imaging. CONCLUSION. Niemann-Pick disease type B is a multisystem disease that affects the pulmonary, cardiovascular, abdominal, and skeletal systems. Cross-sectional imaging is well suited for detecting and assessing the various manifestations of this disease, which can be highly suggestive of the diagnosis when seen in combination.
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页码:W12 / W19
页数:8
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