Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts.
作者信息
Farrell D F, Percy A K, Kaback M M, McKhann G M
出版信息
Am J Hum Genet. 1973 Nov;25(6):604-9.
Abstract
摘要
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Am J Hum Genet. 1973 Nov;25(6):604-9.
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本文引用的文献
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Mutant enzymatic and cytological phenotypes in cultured human fibroblasts.培养的人成纤维细胞中的突变酶学和细胞学表型。
Science. 1967 Aug 18;157(3790):804-6. doi: 10.1126/science.157.3790.804.
2
Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
3
STUDIES IN GLOBOID (KRABBE) LEUKODYSTROPHY. I. THE SIGNIFICANCE OF LIPID ABNORMALITIES IN WHITE MATTER IN 8 GLOBOID AND 13 CONTROL PATIENTS.球形（克拉伯）脑白质营养不良的研究。I. 8例球形脑白质营养不良患者和13例对照患者白质中脂质异常的意义。
Arch Neurol. 1963 Sep;9:207-31. doi: 10.1001/archneur.1963.00460090013001.
4
Human leucocyte arylsulphatase activity.人白细胞芳基硫酸酯酶活性。
Br J Haematol. 1962 Jan;8:86-92. doi: 10.1111/j.1365-2141.1962.tb06498.x.
5
A histological and chemical study of three cases of diffuse cerebral sclerosis.三例弥漫性脑硬化的组织学与化学研究
J Neurol Neurosurg Psychiatry. 1954 Feb;17(1):33-49. doi: 10.1136/jnnp.17.1.33.
6
Isolation of beta-galactosidase and beta-glucosidase from brain.从大脑中分离β-半乳糖苷酶和β-葡萄糖苷酶。
Biochim Biophys Acta. 1966 Mar 7;113(3):567-76. doi: 10.1016/s0926-6593(66)80014-0.
7
Lactosylceramide galactosidase: comparison with other sphingolipid hydrolases in developing rat brain.乳糖基神经酰胺半乳糖苷酶：与发育中大鼠脑内其他鞘脂水解酶的比较
Brain Res. 1969 Jul;14(2):497-505. doi: 10.1016/0006-8993(69)90124-3.
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Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component.泰-萨克斯病：普遍缺乏β-D-N-乙酰己糖胺酶成分。
Science. 1969 Aug 15;165(3894):698-700. doi: 10.1126/science.165.3894.698.
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The neuropathy of Krabbe's infantile cerebral sclerosis (globoid cell leucodystrophy).克拉贝婴儿型脑硬化症（球状细胞白质营养不良）的神经病变
Brain. 1969;92(2):329-44. doi: 10.1093/brain/92.2.329.
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Science. 1968 Aug 9;161(3841):594-5. doi: 10.1126/science.161.3841.594.
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