Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Argov Z., Navon R. Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency. Ann Neurol. 1984 Jul;16(1):14–20. doi: 10.1002/ana.410160105. [DOI] [PubMed] [Google Scholar]
- Brett E. M., Ellis R. B., Haas L., Ikonne J. U., Lake B. D., Patrick A. D., Stephens R. Late onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on 8 patients. Arch Dis Child. 1973 Oct;48(10):775–785. doi: 10.1136/adc.48.10.775. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Harding A. E., Young E. P., Schon F. Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome. J Neurol Neurosurg Psychiatry. 1987 Jun;50(6):687–690. doi: 10.1136/jnnp.50.6.687. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Johnson W. G., Chutorian A., Miranda A. A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies. Neurology. 1977 Nov;27(11):1012–1018. doi: 10.1212/wnl.27.11.1012. [DOI] [PubMed] [Google Scholar]
- Johnson W. G. The clinical spectrum of hexosaminidase deficiency diseases. Neurology. 1981 Nov;31(11):1453–1456. doi: 10.1212/wnl.31.11.1453. [DOI] [PubMed] [Google Scholar]
- Johnson W. G., Wigger H. J., Karp H. R., Glaubiger L. M., Rowland L. P. Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype. Ann Neurol. 1982 Jan;11(1):11–16. doi: 10.1002/ana.410110103. [DOI] [PubMed] [Google Scholar]
- Meek D., Wolfe L. S., Andermann E., Andermann F. Juvenile progressive dystonia: a new phenotype of GM2 gangliosidosis. Ann Neurol. 1984 Apr;15(4):348–352. doi: 10.1002/ana.410150408. [DOI] [PubMed] [Google Scholar]
- Parnes S., Karpati G., Carpenter S., Kin N. M., Wolfe L. S., Suranyi L. Hexosaminidase-A deficiency presenting as atypical juvenile-onset spinal muscular atrophy. Arch Neurol. 1985 Dec;42(12):1176–1180. doi: 10.1001/archneur.1985.04060110058016. [DOI] [PubMed] [Google Scholar]
- Suzuki K., Rapin I., Suzuki Y., Ishii N. Juvenile GM2-gangliosidosis. Clinical variant of Tay-Sachs disease or a new disease. Neurology. 1970 Feb;20(2):190–204. doi: 10.1212/wnl.20.2.190. [DOI] [PubMed] [Google Scholar]