- A Galactosialidosis Mimicking GM1-gangliosidosis Type I
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Im SJ, Nam SO
- KMID: 2329332
- J Korean Child Neurol Soc.
- 2005 Nov;13(2):288-293.
Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase and alpha-neuraminidase, secondary to a defect of another lysosomal protective protein. It is a neurodegenerative disorder clinically... -
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- Sphingolipidoses
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Yoo HW
- KMID: 2168069
- Hanyang Med Rev.
- 2005 Aug;25(3):19-26.
Sphingolipidoses are a subgroup of lysosomal storage disorders. They are characterized by relentless progressive storage in affected organs and concomitant functional impairments. No overall screening procedure for these disorders is... -
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