Marked Heterogeneity in Niemann-Pick Disease, Type C
Marked Heterogeneity in Niemann-Pick Disease, Type C
复制标题
C 型尼曼匹克病的显着异质性
DOI：
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发表时间：
1995
期刊：
影响因子：
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通讯作者：
L. Liscum
中科院分区：
文献类型：
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作者：
M. Natowicz;J. Stoler;E. Prence;L. Liscum
Niemann-Pick disease type C (NP-C) is an autosomal recessive lysosomal lipid storage disorder of unknown etiology. Diagnosis of NP-C is based on characteristic clinical findings and reduced fibroblast esterification of LDL-derived cholesterol. We describe three patients who demonstrate the NP-C spectrum of clinical heterogeneity in age of onset, presenting signs, pattern of organ system involvement, and natural history. In addition, electron microscopic analysis of skin biopsy specimens from these patients revealed marked variability in the extent and cellular distribution of intralysosomal storage and was suggestive of the correct diagnosis in only one case. These cases demonstrate both the limitations of electron microscopy for diagnosis of NP-C and the marked clinical variability in patients with this disorder. Practical clinical guidelines for appropriate suspicion of NP-C are presented.
影响因子：
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作者：
J. Goldstein;S. Basu;Michael S. Brown
通讯作者：
J. Goldstein;S. Basu;Michael S. Brown