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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 (beta-hexosaminidase alpha-chain deficiency)].
Okada S, Taniike M.
Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):394-6.
PMID:9645090
Microglia-neuron crosstalk through Hex-GM2-MGL2 maintains brain homeostasis.
Frosch M, Shimizu T, Wogram E, Amann L, Gruber L, Groisman AI, Fliegauf M, Schwabenland M, Chhatbar C, Zechel S, Rosewich H, Gärtner J, Quintana FJ, Buescher JM, Blank T, Binder H, Stadelmann C, Letzkus JJ, Hopf C, Masuda T, Knobeloch KP, Prinz M.
Nature. 2025 Oct;646(8086):913-924. doi: 10.1038/s41586-025-09477-y. Epub 2025 Aug 6.
PMID:40769205
[Sandhoff disease (beta-hexosaminidase alpha-chain deficiency)].
Taniike M, Okada S.
Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):397-9.
PMID:9645091
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
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
Hexosaminidase--pseudodeficiency?
Kappler J, Gieselmann V, Propping P.
Am J Hum Genet. 1990 Nov;47(5):880-2.
PMID:2145759
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
Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency.
Bradbury AM, Morrison NE, Hwang M, Cox NR, Baker HJ, Martin DR.
Mol Genet Metab. 2009 May;97(1):53-9. doi: 10.1016/j.ymgme.2009.01.003. Epub 2009 Feb 23.
PMID:19231264
Microglial replacement in a Sandhoff disease mouse model reveals myeloid-derived beta-hexosaminidase is necessary for neuronal health.
Tsourmas KI, Butler CA, Kwang NE, Sloane ZR, Dykman KJG, Maloof GO, Choudhury BP, Paulchakrabarti M, Prekopa CA, Tabaie EZ, Krattli RP, El-Khatib SM, Swarup V, Acharya MM, Hohsfield LA, Green KN.
Nat Commun. 2025 Aug 27;16(1):7994. doi: 10.1038/s41467-025-63237-0.
PMID:40866328
[Adult form of GM2-gangliosidosis: a man and 2 sisters with hexosaminidase-A and -B deficiency (Sandhoff disease) and literature review].
Schnorf H, Bosshard NU, Gitzelmann R, Spycher MA, Isler P, Waespe W.
Schweiz Med Wochenschr. 1996 May 4;126(18):757-64.
PMID:8693300
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