Type 3 (chronic) GM1 gangliosidosis presenting as infanto-choreo-athetotic dementia, without epilepsy, in three sisters.

Guazzi, G C; D'Amore, I; Van Hoof, F; Fruschelli, C; Alessandrini, C; Palmeri, S; Federico, A

Guazzi, G C; D'Amore, I; Van Hoof, F; Fruschelli, C; Alessandrini, C; Palmeri, S; Federico, A.

Affiliation

Guazzi GC; Istituto di Scienze Neurologiche, University of Siena, Italy.

Neurology ; 38(7): 1124-7, 1988 Jul.

Article in En | MEDLINE | ID: mdl-3133574

Subject(s)

Conjunctiva/pathology; Dementia/etiology; G(M1) Ganglioside/metabolism; Gangliosidoses/genetics; Adolescent; Adult; Bone Marrow/metabolism; Bone Marrow/pathology; Bone Marrow/ultrastructure; Cells, Cultured; Conjunctiva/metabolism; Conjunctiva/ultrastructure; Dementia/metabolism; Dementia/pathology; Female; Fibroblasts/metabolism; Gangliosidoses/metabolism; Gangliosidoses/pathology; Humans; Leukocytes/enzymology; Lysosomes/enzymology; Microscopy, Electron; Oligosaccharides/urine; Vacuoles/metabolism; Vacuoles/ultrastructure; alpha-L-Fucosidase/metabolism; beta-Galactosidase/metabolism

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Collection: 01-internacional Database: MEDLINE Main subject: Gangliosidoses / Conjunctiva / Dementia / G(M1) Ganglioside Limits: Adolescent / Adult / Female / Humans Language: En Journal: Neurology Year: 1988 Type: Article Affiliation country: Italy

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