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1
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.
2
An improved method for the identification of patients and carriers of Krabbe's disease.
Clin Chim Acta. 1974 Oct 30;56(2):199-206. doi: 10.1016/0009-8981(74)90228-9.
3
The use of natural and artifical substrates in the prenatal diagnosis of Krabbe's disease.
J Inherit Metab Dis. 1978;1(3):115-8. doi: 10.1007/BF01805686.
4
[Prenatal diagnosis of globoid-cell leukodystrophy (Krabbe's disease) (author's transl)].
Dtsch Med Wochenschr. 1976 May 21;101(21):821-7. doi: 10.1055/s-0028-1104178.
5
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.
6
Use of a chromogenic substrate for the diagnosis of Krabbe's disease, with special reference to its application in prenatal diagnosis.使用显色底物诊断克拉伯病，特别提及其在产前诊断中的应用。
Clin Chim Acta. 1978 Sep 1;88(2):229-36. doi: 10.1016/0009-8981(78)90427-8.
7
Application of a galactosylceramidase microassay method to early prenatal diagnosis of Krabbe's disease.
Clin Chim Acta. 1982 Nov 10;125(3):265-73. doi: 10.1016/0009-8981(82)90256-x.
8
Krabbe's disease: first trimester diagnosis confirmed on cultured amniotic fluid cells and fetal tissues.
Prenat Diagn. 1987 Jun;7(5):329-32. doi: 10.1002/pd.1970070506.
9
Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's diseases). Third documented case.
Hum Genet. 1977 Feb 11;35(2):193-6. doi: 10.1007/BF00393969.
10
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.

引用本文的文献

1
Multiple molecular forms of lysosomal enzymes in mucolipidosis II.黏脂贮积症II中溶酶体酶的多种分子形式。
Hum Genet. 1981;58(3):317-21. doi: 10.1007/BF00294931.
2
Heterozygote detection in MLD. allelic mutations at the ARA locus.异染性脑白质营养不良中的杂合子检测。芳基硫酸酯酶A基因座的等位基因突变。
Hum Genet. 1981;59(2):129-34. doi: 10.1007/BF00293061.
3
Genetic control of developmental patterns of cerebral enzyme activities: further differences between C3H and ICR strains of mice.脑酶活性发育模式的遗传控制：C3H和ICR品系小鼠之间的进一步差异
Neurochem Res. 1981 Aug;6(8):863-71. doi: 10.1007/BF00965044.
4
Developmental dissociation of myelin synthesis and "myelin-associated" enzyme activities in the shiverer mouse.颤抖小鼠中髓鞘合成与“髓鞘相关”酶活性的发育性分离
Neurochem Res. 1980 Aug;5(8):885-95. doi: 10.1007/BF00965788.
5
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.
6
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.

本文引用的文献

1
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.
8
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.
9
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.
10
Metachromatic leukodystrophy: diagnosis with samples of venous blood.异染性脑白质营养不良：通过静脉血样本进行诊断
Science. 1968 Aug 9;161(3841):594-5. doi: 10.1126/science.161.3841.594.

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.

PMID:4773478
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1762568/
Abstract
摘要