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法布里病：在成纤维细胞培养物的电子显微镜检查中发现的特异性包涵体。

Fabry's disease: specific inclusions found on electron microscopy of fibroblast cultures.

作者信息

McLean J, Stewart G

出版信息

J Med Genet. 1974 Jun;11(2):133-5. doi: 10.1136/jmg.11.2.133.

DOI:10.1136/jmg.11.2.133
PMID:4366946
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013107/
Abstract

Electron microscopy of fibroblasts cultured from skin biopsies of two sibs with Fabry's disease has shown characteristic crystalline cytoplasmic inclusions.

摘要

对两名患有法布里病的同胞的皮肤活检样本中培养的成纤维细胞进行电子显微镜检查，发现了具有特征性的结晶状细胞质内含物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf65/1013107/3b40a457c70e/jmedgene00319-0026-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf65/1013107/6e8493d813e8/jmedgene00319-0026-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf65/1013107/3b40a457c70e/jmedgene00319-0026-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf65/1013107/6e8493d813e8/jmedgene00319-0026-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf65/1013107/3b40a457c70e/jmedgene00319-0026-b.jpg

相似文献

1
Fabry's disease: specific inclusions found on electron microscopy of fibroblast cultures.法布里病：在成纤维细胞培养物的电子显微镜检查中发现的特异性包涵体。
J Med Genet. 1974 Jun;11(2):133-5. doi: 10.1136/jmg.11.2.133.
2
Angiokeratoma corporis diffusum (Fabry's diseases).
Dermatologica. 1974;148(1):48-9.
3
[Analytical study of Fabry's disease (author's transl)].
Virchows Arch A Pathol Anat Histol. 1974;363(3):287-301. doi: 10.1007/BF00432808.
4
Neuropathological and biochemical studies in Fabry's disease.
Acta Neuropathol. 1974;30(4):345-54. doi: 10.1007/BF00697017.
5
Pulmonary involvement in Fabry's disease: a reappraisal follow-up of a San Diego kindred and review of literature.
Am J Med. 1972 Dec;53(6):755-64. doi: 10.1016/0002-9343(72)90194-5.
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Electron microscopic observations on cultured fibroblasts from Fabry heterozygotes and hemizygotes.
Ultrastruct Pathol. 1982 Jan-Mar;3(1):51-8. doi: 10.3109/01913128209016625.
7
[The heart in Fabry's disease].
Arch Mal Coeur Vaiss. 1972 Apr;65(4):495-503.
8
Cultured skin fibroblasts in storage disorders. An analysis of ultrastructural features.储存障碍中的培养皮肤成纤维细胞。超微结构特征分析。
Am J Pathol. 1973 Oct;73(1):59-80.
9
The central nervous system in Fabry's disease. An ultrastructural study.
Arch Neurol. 1973 Apr;28(4):231-4. doi: 10.1001/archneur.1973.00490220039004.
10
Pathologic lysosomes and increased urinary glycosylceramide excretion in Fabry's disease. Studies on a family with evidence of linkage with the sex-linked blood group Xg.
Lab Invest. 1971 Jul;25(1):1-14.

引用本文的文献

1
Loss of electron-dense lamellar material from Fabry's disease fibroblasts after enzyme replacement.酶替代治疗后法布里病成纤维细胞中电子致密层状物质的丢失。
Hum Genet. 1983;65(1):85-7. doi: 10.1007/BF00285037.
2
Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.皮肤活检标本的形态学研究：对伴有神经系统受累的代谢紊乱诊断的贡献。
J Neurol Neurosurg Psychiatry. 1978 Mar;41(3):232-48. doi: 10.1136/jnnp.41.3.232.

本文引用的文献

1
Fabry's disease: alpha-galactosidase deficiency.法布里病：α-半乳糖苷酶缺乏症。
Science. 1970 Feb 27;167(3922):1268-9. doi: 10.1126/science.167.3922.1268.
2
The central nervous system in Fabry's disease. An ultrastructural study.
Arch Neurol. 1973 Apr;28(4):231-4. doi: 10.1001/archneur.1973.00490220039004.
3
Peripheral nerve involvement in Fabry's disease.
Arch Neurol. 1970 Jan;22(1):81-8. doi: 10.1001/archneur.1970.00480190085014.
4
[Peripheral neurological disorders in Fabry's disease (angiokeratoma corporis diffusum universale). Clinical and electron microscopic findings in a case].
Klin Wochenschr. 1968 Jun 15;46(12):666-71. doi: 10.1007/BF01727738.
5
Glycolipid and mucopolysaccharide abnormality in fibroblasts of fabry's disease.法布里病成纤维细胞中的糖脂和粘多糖异常。
Science. 1969 Jun 27;164(3887):1522-3. doi: 10.1126/science.164.3887.1522.