Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis

Author:

Lei Hong-Lin,Ye Jun,Qiu Wen-Juan,Zhang Hui-Wen,Han Lian-Shu,Wang Yu,Gu Xue-Fan

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference11 articles.

1. Santamaria R, Chabás A, Callahan JW, Grinberg D, Vilageliu L. Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. J Lipid Res 2007;48:2275–2282.

2. Okumiya T, Sakuraba H, Kase R, Sugiura T. Imbalanced substrate specificity of mutant beta-galactosidase in patients with Morquio B disease. Mol Genet Metab 2003;78:51–58.

3. Sinigerska I, Chandler D, Vaghjiani V, Hassanova I, Gooding R, Morrone A, et al. Founder mutation causing infantile GM1 gangliosidosis in the Gypsy population. Mol Genet Metab 2006;88:93–95.

4. Suzuki Y, Oshima A, Nanba E. Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and molecular basis of inherited disease, 8th ed. New York: McGraw-Hill Inc, 2001:3775–3809.

5. Wang PL, Wu WY. A simple and rapid method for quantitative diagnosis of mucopolysaccharide. Zhonghua YiXue Za Zhi 1981;61:768–769. [in Chinese]

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