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名词信息
中 文 名:
氨基己糖苷酶缺乏症
英 文 名:
hexosaminidase deficiency disease
中文又称:
中文曾称:
名词来源:
所属专业:
神经内科
所属类别:
疾病诊断名词
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Pubmed相关的文献
hexosaminidase deficiency disease
相关文献:
Tay-Sachs disease.
Fernandes Filho JA, Shapiro BE.
Arch Neurol. 2004 Sep;61(9):1466-8. doi: 10.1001/archneur.61.9.1466.
PMID:15364698
GM2 gangliosidosis with a motor neuron disease phenotype: clinical heterogeneity of hexosaminidase deficiency disease.
Federico A.
Adv Exp Med Biol. 1987;209:19-23. doi: 10.1007/978-1-4684-5302-7_4.
PMID:2953177
Inheritance of the enzyme defect in a new hexosaminidase deficiency disease.
Johnson WG, Chutorian AB.
Ann Neurol. 1978 Nov;4(5):399-403. doi: 10.1002/ana.410040503.
PMID:104655
Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.
Navon R, Padeh B, Adam A.
Am J Hum Genet. 1973 May;25(3):287-93.
PMID:4704860
Discovery of beta-hexosaminidase A deficiency in Tay-Sachs disease.
Okada S, O'Brien JS.
Adv Genet. 2001;44:61-6. doi: 10.1016/s0065-2660(01)44071-5.
PMID:11596999
[Schindler disease/Kanzaki disease].
Kanzaki T.
Nihon Rinsho. 1995 Dec;53(12):2982-7.
PMID:8577046
[Lysosome disease--Sandhoff disease].
Eguchi I, Wakamatsu N, Nakano R, Tsuji S.
Nihon Rinsho. 1993 Sep;51(9):2276-80.
PMID:8411702
The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse.
Tifft CJ, Proia RL.
Ann Med. 1997 Dec;29(6):557-61. doi: 10.3109/07853899709007482.
PMID:9562524
Hexosaminidase assays.
Wendeler M, Sandhoff K.
Glycoconj J. 2009 Nov;26(8):945-52. doi: 10.1007/s10719-008-9137-5.
PMID:18473163
Sandhoff disease.
Tatematsu M, Imaida K, Ito N, Togari H, Suzuki Y, Ogiu T.
Acta Pathol Jpn. 1981 May;31(3):503-12. doi: 10.1111/j.1440-1827.1981.tb01391.x.
PMID:7270152
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