Mannosidosis: tissue culture studies in relation to prenatal diagnosis.
作者信息
Maire I, Zabot M T, Mathieu M, Cotte J, Hermier M
出版信息
J Inherit Metab Dis. 1978;1(1):19-23. doi: 10.1007/BF01805710.
PMID:117231
Abstract
摘要
相似文献
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Prenatal diagnosis of fucosidosis.岩藻糖苷贮积症的产前诊断。
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Prenatal diagnosis of fucosidosis.岩藻糖苷贮积症的产前诊断
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Mannosidosis: clinical and biochemical findings.甘露糖苷贮积症：临床与生化检查结果
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本文引用的文献
1
Mannosidosis: a clinical and histopathologic study.甘露糖苷贮积症：一项临床与组织病理学研究。
J Pediatr. 1969 Sep;75(3):366-73. doi: 10.1016/s0022-3476(69)80260-x.
2
Excretion of mannose-rich complex carbohydrates by a patient with alpha-mannosidase deficiency (mannosidosis).一名患有α-甘露糖苷酶缺乏症（甘露糖苷贮积症）的患者排泄富含甘露糖的复合碳水化合物。
J Pediatr. 1974 Jun;84(6):865-8. doi: 10.1016/s0022-3476(74)80768-7.
3
Characterization of two mannose-containing oligosaccharides isolated from the urine of patients with mannosidosis.从甘露糖苷贮积症患者尿液中分离出的两种含甘露糖寡糖的特性分析。
Biochemistry. 1974 Feb 26;13(5):871-4. doi: 10.1021/bi00702a006.
4
Human mannosidosis--the enzyme defect.人类甘露糖苷贮积症——酶缺陷
Biochem Biophys Res Commun. 1972 Oct 17;49(2):579-83. doi: 10.1016/0006-291x(72)90450-0.
5
Urinary mannose in mannosidosis.甘露糖苷贮积症中的尿甘露糖。
J Pediatr. 1973 Apr;82(4):686-8. doi: 10.1016/s0022-3476(73)80599-2.
6
Mannosidosis: clinical, fine-structural and biochemical findings in three cases.甘露糖苷贮积症：3例患者的临床、超微结构及生化检查结果
Acta Paediatr Scand. 1973 Nov;62(6):555-65. doi: 10.1111/j.1651-2227.1973.tb17065.x.
7
Clinical, biochemical and ultrastructural studies of an atypical form of mucopolysaccharidosis.一种非典型黏多糖贮积症的临床、生化及超微结构研究
Acta Paediatr Scand. 1969 May;58(3):220-8. doi: 10.1111/j.1651-2227.1969.tb04710.x.
8
An example of rapid prenatal diagnosis of Fabry's disease using microtechniques.使用微技术对法布里病进行快速产前诊断的一个实例。
Clin Genet. 1974;5(4):368-77. doi: 10.1111/j.1399-0004.1974.tb01708.x.
9
Mannosidosis: detection of the disease and of heterozygotes using serum and leucocytes.甘露糖苷贮积症：利用血清和白细胞检测该疾病及杂合子。
Biochem Biophys Res Commun. 1974 Jan 23;56(2):296-303. doi: 10.1016/0006-291x(74)90841-9.
10
Diagnosis of mannosidosis.甘露糖苷贮积症的诊断
Lancet. 1973 Jan 27;1(7796):207-8. doi: 10.1016/s0140-6736(73)90045-7.
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