[beta-Galactosidase-neuraminidase deficiency--an adult female case with angiokeratoma like Fabry disease].
作者信息
Nakayama K, Nakamura S, Izawa R, Munakata A
出版信息
Nihon Hifuka Gakkai Zasshi. 1983 Feb;93(3):309-18.
PMID:6410108
Abstract
摘要
相似文献
1
[beta-Galactosidase-neuraminidase deficiency--an adult female case with angiokeratoma like Fabry disease].
Nihon Hifuka Gakkai Zasshi. 1983 Feb;93(3):309-18.
2
beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum.
Arch Dermatol. 1984 Oct;120(10):1344-6.
3
[A case of adult type sialidosis with partial beta-galactosidase deficiency without myoclonus].一例无肌阵挛的部分β-半乳糖苷酶缺乏的成人型涎酸沉积症
Rinsho Shinkeigaku. 1983 Jan;23(1):1-8.
4
[Adult type beta-galactosidase and neuraminidase deficiency in 3 siblings].[3名兄弟姐妹中的成人型β-半乳糖苷酶和神经氨酸酶缺乏症]
Rinsho Shinkeigaku. 1982 Oct;22(10):873-80.
5
[Six adult cases of beta-galactosidase--neuraminidase deficiency in three families.--Clinical and enzymological studies with review of literature].[三个家族中的六例成人β-半乳糖苷酶-神经氨酸酶缺乏症病例——临床与酶学研究并文献复习]
Seishin Shinkeigaku Zasshi. 1982;84(12):917-38.
6
Galatosialidosis (beta-galactosidase-neuraminidase deficiency): clinical and biochemical studies on 13 patients.
Adv Exp Med Biol. 1982;152:241-51.
7
Neuropathological findings of an autopsy case of adult beta-galactosidase and neuraminidase deficiency.一例成人β-半乳糖苷酶和神经氨酸酶缺乏症尸检病例的神经病理学发现。
Acta Neuropathol. 1983;61(3-4):283-90. doi: 10.1007/BF00691999.
8
beta-Galactosidase-neuraminidase deficiency (galactosialidosis): clinical, pathological, and enzymatic studies in a postmortem case.
Ann Neurol. 1983 May;13(5):497-503. doi: 10.1002/ana.410130505.
9
Neuraminidase deficiency and accumulation of sialic acid in lymphocytes in adult type sialidosis with partial beta-galactosidase deficiency.成人型唾液酸沉积症伴部分β-半乳糖苷酶缺乏时的神经氨酸酶缺乏及淋巴细胞中唾液酸的蓄积
Ann Neurol. 1982 May;11(5):541-3. doi: 10.1002/ana.410110517.
10
A case of neuraminidase deficiency associated with a partial beta-galactosidase defect. Clinical, biochemical and radiological studies.一例与部分β-半乳糖苷酶缺陷相关的神经氨酸酶缺乏症。临床、生化及放射学研究。
Eur J Pediatr. 1979 Apr 3;130(4):239-49. doi: 10.1007/BF00441360.
Zotero 插件