A case of adult type galactosialidosis with involvement of peripheral nerves
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The majority of GS patients belong to the juvenile/adult type, are mostly of Japanese origin, and have severe neurologic manifestations including myoclonus, cerebellar ataxia, generalized seizures, progressive cognitive impairment, and mental retardation, with absence of visceromegaly, angiokeratoma, and long survival frequently observed.
“The majority of GS patients belong to the juvenile/adult type.”
From Galactosialidosis: historic aspects and overview of investigated and emerging treatment options (2017) · cites this paper as [13]
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Galactosialidosis: historic aspects and overview of investigated and emerging treatment options
Annunziata, I., & d’Azzo, A. (2017) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2016.1266933 · Cited by 50 · see citing works
- Authors
- Mochizuki, A., Motoyoshi, Y., Takeuchi, M., Sonoo, M., & Shimizu, T.
- Affiliations
- Tokyo Women's Medical University (JP)
- Teikyo University (JP)
- Venue
- Journal of Neurology
- Published
- 2000-10-02
- Volume
- 247
- Issue
- 9
- Pages
- 708-710
- ISSN
- 0012-1037 (ISSN-L)
- 0340-5354
- 1432-1459
- OpenAlex
- W1991059970
- Cited by
- 8
- References
- 0
- Citations by year
- 2025: 2 · 2016: 1 · 2014: 1 · 2013: 2
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Institutional Repositories DataBase (IRDB) (submittedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Keywords
- peripheral neuropathy, peripheral nerve involvement, lysosomal storage disease
- MeSH terms
- Adult, beta-Galactosidase, Gangliosidoses, Humans, Male, Neuraminidase, Peripheral Nervous System Diseases
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