Isoelectric focusing of galactosylceramide beta-galactosylceramide beta-galactosidase in cultured skin fibroblasts of patients with Krabbe's globoid-cell leucodystrophy.
作者信息
Besley G T
出版信息
Biochem Soc Trans. 1975;3(2):241-4. doi: 10.1042/bst0030241.
PMID:1132549
Abstract
摘要
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1
Isoelectric focusing of galactosylceramide beta-galactosylceramide beta-galactosidase in cultured skin fibroblasts of patients with Krabbe's globoid-cell leucodystrophy.克拉伯病（球形细胞脑白质营养不良症）患者培养皮肤成纤维细胞中半乳糖基神经酰胺β-半乳糖基神经酰胺β-半乳糖苷酶的等电聚焦分析
Biochem Soc Trans. 1975;3(2):241-4. doi: 10.1042/bst0030241.
2
Krabbe's globoid cell leucodystrophy. Studies on galactosylceramide beta-galactosidase and non-specific beta-galactosidase of leucocytes, cultured skin fibroblasts, and amniotic fluid cells.克拉伯病（球形细胞脑白质营养不良症）。白细胞、培养的皮肤成纤维细胞及羊水细胞的半乳糖基神经酰胺β-半乳糖苷酶和非特异性β-半乳糖苷酶研究。
J Med Genet. 1976 Jun;13(3):195-9. doi: 10.1136/jmg.13.3.195.
3
Antenatal diagnosis of Krabbe's leucodystrophy: enzymatic and morphological confirmation in an affected fetus.克拉伯病的产前诊断：对一名患病胎儿的酶学和形态学确诊
J Neurol Neurosurg Psychiatry. 1978 Jan;41(1):76-82. doi: 10.1136/jnnp.41.1.76.
4
Clinical and biochemical heterogeneity of globoid cell leukodystrophy.球形细胞脑白质营养不良的临床和生化异质性。
Ann Neurol. 1981 Oct;10(4):364-8. doi: 10.1002/ana.410100408.
5
Specificity of galactosylceramidase activation by phosphatidylserine.磷脂酰丝氨酸对半乳糖神经酰胺酶激活的特异性。
Biochim Biophys Acta. 1980 Aug 11;619(2):396-402. doi: 10.1016/0005-2760(80)90087-9.
6
Chemical pathology of krabbe's disease. IV. Studies of galactosylceramide and lactosylceramide BETA-galactosidases in brain, white blood cells and aminotic fluid cells.克拉伯病的化学病理学。IV. 脑、白细胞和羊水细胞中半乳糖基神经酰胺和乳糖基神经酰胺β-半乳糖苷酶的研究。
Acta Paediatr Scand. 1975 Jul;64(4):649-56. doi: 10.1111/j.1651-2227.1975.tb03897.x.
7
A case of Krabbe's leukodystrophy without globoid cells.一例无球状细胞的克拉伯病。
Pathology. 1990 Oct;22(4):235-8. doi: 10.3109/00313029009086670.
8
Glycosphingolipid beta-galactosidases. II. Electrofocusing characterization of the enzymes in human globoid cell leukodystrophy (Krabbe's disease).
J Biol Chem. 1974 Apr 10;249(7):2105-8.
9
Use of a fluorescent analogue of galactocerebroside for assay of galactocerebroside beta-galactosidase activity in skin fibroblasts from patients with Krabbe's disease.使用半乳糖脑苷脂的荧光类似物测定克拉伯病患者皮肤成纤维细胞中的半乳糖脑苷脂β-半乳糖苷酶活性。
Clin Chim Acta. 1984 Jan 16;136(1):57-63. doi: 10.1016/0009-8981(84)90247-x.
10
Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts.球状细胞（克拉伯氏）脑白质营养不良：培养的皮肤成纤维细胞中杂合子的检测
Am J Hum Genet. 1973 Nov;25(6):604-9.
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