Cranial CT in fucosidosis.
作者信息
Kessler R M, Altman D H, Martin-Jimenez R
出版信息
AJNR Am J Neuroradiol. 1981 Nov-Dec;2(6):591-2.
Abstract
摘要
相似文献
1
Cranial CT in fucosidosis.岩藻糖苷贮积症的头颅CT
AJNR Am J Neuroradiol. 1981 Nov-Dec;2(6):591-2.
2
Two patients with an unusual form of type II fucosidosis.两名患有罕见形式II型岩藻糖苷贮积症的患者。
Clin Genet. 1980 Nov;18(5):348-54. doi: 10.1111/j.1399-0004.1980.tb02295.x.
3
[Recent acquisitions on fucosidosis].[近期关于岩藻糖苷贮积症的研究进展]
Arch Fr Pediatr. 1975 Nov;32(9):769-72.
4
[Fucosidosis and mannosidosis].[岩藻糖苷贮积症和甘露糖苷贮积症]
Nihon Rinsho. 1978 May;Suppl:1404-5.
5
[Fucosidosis. Description of a clinical case].[岩藻糖苷贮积症。一例临床病例描述]
Minerva Pediatr. 1978 Aug 31;30(16):1307-12.
6
Cultured fucosidosis fibroblasts: a simple technique demonstrating storage of tritiated-fucose labeled material.培养的岩藻糖苷贮积症成纤维细胞：一种展示氚标记岩藻糖标记物质储存的简单技术。
Clin Genet. 1976 Sep;10(3):183-6. doi: 10.1111/j.1399-0004.1976.tb00031.x.
7
Letter: Genetic heterogeneity in fucosidosis.信件：岩藻糖苷贮积症中的基因异质性。
Lancet. 1973 Nov 3;302(7836):1024. doi: 10.1016/s0140-6736(73)91112-4.
8
Letter: Genetic heterogeneity in fucosidosis.
Lancet. 1973 Dec 15;2(7842):1387-8. doi: 10.1016/s0140-6736(73)93352-7.
9
Cranial computed tomography in disorders of complex carbohydrate metabolism and related storage diseases.复杂碳水化合物代谢紊乱及相关贮积病的头颅计算机断层扫描
AJNR Am J Neuroradiol. 1983 May-Jun;4(3):431-3.
10
[2 new cases of type II fucosidosis].
Bull Soc Ophtalmol Fr. 1982 Jan;82(1):91-3.
引用本文的文献
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Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.黏脂贮积症的临床特征、长期预后和遗传特征：综述和病例系列。
Genes (Basel). 2020 Nov 22;11(11):1383. doi: 10.3390/genes11111383.
2
MR brain imaging of fucosidosis type I.I型岩藻糖苷贮积症的脑部磁共振成像
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Pediatric neuroradiology.小儿神经放射学
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Evolution of the neuroimaging changes in fucosidosis type II.II型岩藻糖苷贮积症神经影像学改变的演变
J Inherit Metab Dis. 1996;19(6):775-81. doi: 10.1007/BF01799172.
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The value of CT in diagnosis and prognosis of different inborn neurodegenerative disorders in childhood.CT在儿童不同先天性神经退行性疾病诊断及预后评估中的价值。
J Neurol. 1984;231(2):57-70. doi: 10.1007/BF00313718.
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Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.岩藻糖贮积症中结构性α-L-岩藻糖苷酶基因突变的鉴定。
Am J Hum Genet. 1988 Nov;43(5):756-63.
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