A case of the B1 variant of GM2-gangliosidosis-Reference-Cited by-同舟云学术

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A case of the B1 variant of GM2-gangliosidosis

Published:1990-05 Issue:3 Volume:13 Page:280-282
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Gray R. G. F.,Green A.,Rabb L.,Broadhead D. M.,Besley G. T. N.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF01799373

Reference5 articles.

1. Besley, G. T. N., Broadhead, D. M. and Young, J. A. GM2-gangliosidosis variant with altered substrate specificity: evidence forα-locus genetic compound.J. Inher. Metab. Dis. 10 (1987) 403–404

2. Besley, G. T. N., Broadhead, D. M. and Young, J. A. Diagnosis of hexosaminidase A deficiency with a sulphated substrate: evidence for anα-locus genetic compound in a Tay-Sachs variant. In Salvayre, R., Douste-Blazy, L. and Gatt, S. (eds.),Lipid Storage Disorders, Plenum Press, New York and London, 1988, pp. 247–252

3. Goebel, H. H., Stolte, G., Kustermann-Kuhn, B. and Harzer, K. B1 variant of GM2-gangliosidosis in a 12-year-old patient.Pediatr. Res. 25 (1989) 89–93

4. Li, S-C., Hirabayashi, Y. and Li, Y-T. A new variant of type AB gangliosidosis.Biochem. Biophys. Res. Commun. 101 (1981) 479–485

5. Neufeld, E. F. Natural history and inherited disorders of a lysosomal enzyme,β-hexosaminidase.J. Biol. Chem. 264 (1989) 10927–10930

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. GM2 Gangliosidosis;Magnetic Resonance of Myelination and Myelin Disorders;2005

2. GM2 Gangliosidosis B1 Variant: Biochemical and Molecular Characterization of Hexosaminidase A;Biochemical and Molecular Medicine;1995-04

3. GM2 Gangliosidosis;Magnetic Resonance of Myelin, Myelination, and Myelin Disorders;1995

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