无软骨发育不良或内脏肿大的GM1神经节苷脂贮积症。伴有神经节苷脂贮积症和硫酸角质素过度排泄的β-半乳糖苷酶缺乏症。 - Suppr

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超能文献

GM1-gangliosidosis without chondrodystrophy or visceromegaly. B-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate.

作者信息

Wolfe L S, Callahan J, Fawcett J S, Andermann F, Scriver C R

出版信息

Neurology. 1970 Jan;20(1):23-44. doi: 10.1212/wnl.20.1.23.

DOI:10.1212/wnl.20.1.23

PMID:4243740

Abstract

摘要

相似文献

GM1-gangliosidosis without chondrodystrophy or visceromegaly. B-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate.无软骨发育不良或内脏肿大的GM1神经节苷脂贮积症。伴有神经节苷脂贮积症和硫酸角质素过度排泄的β-半乳糖苷酶缺乏症。

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Clin Chim Acta. 1968 Sep;21(3):421-5. doi: 10.1016/0009-8981(68)90071-5.

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The genetic defect in the various types of human beta-galactosidase deficiency.人类各种类型β-半乳糖苷酶缺乏症中的基因缺陷。

Hum Genet. 1980 Feb;53(2):241-7. doi: 10.1007/BF00273505.

The genetic mismanagement of complex lipid metabolism.复杂脂质代谢的基因管理不当。

Bull N Y Acad Med. 1971 Feb;47(2):173-82.

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Humangenetik. 1970;9(2):113-39. doi: 10.1007/BF00278928.

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Acta Neuropathol. 1974;30(1):73-84. doi: 10.1007/BF00685324.

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Am J Pathol. 1975 Oct;81(1):255-8.

GM1 gangliosidosis type 1 in twins.双胞胎中的1型GM1神经节苷脂贮积症

J Med Genet. 1977 Apr;14(2):132-4. doi: 10.1136/jmg.14.2.132.

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