Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease

Author:

Zhang Wen,Zeng Huasong,Huang Yonglan,Xie Ting,Zheng Jipeng,Zhao Xiaoyuan,Sheng Huiying,Liu Hongsheng,Liu Li

Funder

China National "Twelfth Five-Year" Plan for Science and Technology Support

Guangzhou Branch Bureau of Science and Technology Plan Project

Guangdong Provincial Bureau of Science and Technology Project

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry

Reference28 articles.

1. Aryan H, Aryani O, Banihashemi K, Zaman T, Houshmand M (2012) Novel mutations in sandhoff disease: A molecular analysis among Iranian Cohort of Infantile Patients. Iran J Public Health 41(3):112–118 Epub 2012 Mar 31

2. Banerjee P, Siciliano L, Oliveri D, McCabe NR, Boyers MJ, Horwitz AL, Li SC, Dawson G (1991) Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease. Biochem Biophys Res Commun 181(1):108–115

3. Banerjee P, Boyers MJ, Berry-Kravis E, Dawson G (1994) Preferential beta-hexosaminidase (hex) A (alpha beta) formation in the absence of beta-hex B (beta beta) due to heterozygous point mutations present in beta-hex beta-chain alleles of a motor neuron disease patient. J Biol Chem 269(7):4819–4826

4. Beutler E, Kuhl W, Comings D (1975) Hexosaminidase isozyme in type O Gm2 gangliosidosis (sandhoff-jatzkewitz disease). Am J Hum Genet 27(5):628–638

5. Blau N, Duran M, Gibson KM (2008) Laboratory guide to the methods in Bi-ochemical Genetics. Berlin: Springer-Verlag Berlin and Heidelberg GmbH&Co.K 356–360

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