A case of adult type galactosialidosis with involvement of peripheral nerves [2]

Journal of Neurology

Volumn 247, Issue 9, 2000, Pages 708-710

  Mochizuki, Atsuko ^a   Motoyoshi, Yasufumi ^b   Takeuchi, Megumi ^a   Sonoo, Masahiro ^a   Shimizu, Teruo ^b  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b TEIKYO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GALACTOSIDASE; SIALIDASE;

ADULT; CASE REPORT; CELL VACUOLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; ENZYME ACTIVITY; FIBROBLAST; GALACTOSIALIDOSIS; GENE MUTATION; HUMAN; JAPAN; LABORATORY TEST; LETTER; MALE; MYELINATED NERVE; NERVE BIOPSY; NERVE DEGENERATION; NONMYELINATED NERVE; PERINEURIUM; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SCHWANN CELL; SENSORY NERVE CONDUCTION; SURAL NERVE;

ADULT; BETA-GALACTOSIDASE; CASE REPORT; GANGLIOSIDOSES; HUMAN; MALE; NEURAMINIDASE; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 0033776370     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004150070116     Document Type: Letter

References (13)

1. Neuropathological findings of an autopsy case of adult b-galactosidase and neuraminidase deficiency
2. Molecular defect in combined β-galactosidase and neuraminidase deficiency in man
3. The relation between human lysosomal β-galactosidase and its protective protein
4. Late-infantile form galactosialidosis with psychomotor retardation and spastic paraparesis
5. Adult type neuronal storage disease with neuraminidase deficiency
6. Galactosialidosis: Neuropathological findings in a case of the late-infantile type
7. Six adult cases of β-galactosidase neuraminidase deficiency in three families. Clinical and enzymological studies with review of literature
8. β-Galactosidase-neuraminidase deficiency (galactosialidosis): Clinical, pathological, and enzymatic studies in a postmortem case
9. Adult type β-galactosidase and neuraminidase deficiency in three siblings
10. Macular cherry-red spots and β-galactosidase deficiency in an adult
11. Dysmorphic type of sialidosis: Studies on autonomic nervous system and cerebral evoked potentials
12. Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies
13. A case of adult type sialidosis with partial β-galactosidase deficiency without myoclonus