Fucosidosis: deficiency of alpha-L-fucosidase in cultured skin fibroblasts.
作者信息
Zielke K, Veath M L, O'Brien J S
出版信息
J Exp Med. 1972 Jul 1;136(1):197-9. doi: 10.1084/jem.136.1.197.
Abstract
摘要
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Fucosidosis: deficiency of alpha-L-fucosidase in cultured skin fibroblasts.岩藻糖苷贮积症：培养的皮肤成纤维细胞中α-L-岩藻糖苷酶缺乏。
J Exp Med. 1972 Jul 1;136(1):197-9. doi: 10.1084/jem.136.1.197.
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alpha-L-fucosidase in cultured skin fibroblasts from normal subjects and fucosidosis patients.来自正常受试者和岩藻糖贮积症患者的培养皮肤成纤维细胞中的α-L-岩藻糖苷酶
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Determination of lysosomal enzymes in saliva. Confirmation of the diagnosis of metachromatic leukodystrophy and fucosidosis by enzyme analysis.唾液中溶酶体酶的测定。通过酶分析确诊异染性脑白质营养不良和岩藻糖苷贮积症。
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[Histochemical study of the skin in fucosidosis].
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Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.FUT8 双等位基因突变导致糖基化缺陷的先天性糖基化紊乱。
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Lipid and lysosomal enzymes in human fibroblasts cultured with perhexiline maleate.用马来酸哌克昔林培养的人成纤维细胞中的脂质和溶酶体酶。
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Biochemical and genetic studies of plasma and leukocyte alpha-L-fucosidase.血浆和白细胞α-L-岩藻糖苷酶的生化及遗传学研究
Am J Hum Genet. 1976 Jan;28(1):42-50.
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[Suitability of naphthyl-alpha-L-fucosides for the investigation of alpha-L-fucosidases (author's transl)].萘基-α-L-岩藻糖苷用于α-L-岩藻糖苷酶研究的适用性（作者译）
Histochemistry. 1977 Jun 8;52(3):259-71. doi: 10.1007/BF00495861.
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Glycopeptide storage in skin fibroblasts cultured from a patient with alpha-mannosidase deficiency.从一名α-甘露糖苷酶缺乏症患者培养的皮肤成纤维细胞中糖肽的储存情况。
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本文引用的文献
1
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.
2
3
Fucosidosis: diagnosis by serum assay of alpha-L-fucosidase.岩藻糖苷贮积症：通过血清α-L-岩藻糖苷酶检测进行诊断。
J Lab Clin Med. 1972 Jan;79(1):164-9.
4
Biochemical and ultrastructural studies in a case of mucopolysaccharidosis "F" (fucosidosis).黏多糖贮积症“F”（岩藻糖苷贮积症）一例的生化及超微结构研究
Helv Paediatr Acta. 1969 Oct;24(5):519-37.
5
Fucosidosis.岩藻糖苷贮积症
J Pediatr. 1969 Oct;75(4):665-74. doi: 10.1016/s0022-3476(69)80464-6.
6
Mucopolysaccharidosis by absence of alpha-fucosidase.因缺乏α-岩藻糖苷酶所致的黏多糖贮积症。
Lancet. 1968 Jun 1;1(7553):1198. doi: 10.1016/s0140-6736(68)91895-3.
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