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Gangliosidoosi, GM1
Hierarki: | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 2 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 2 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 2 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 2 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 2 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 2 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 2 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 2 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 2 sidobegreppX |
Bredare villkor: | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Gangliosidoosi, GM1 |
Anmärkning: | |
Anmärkning: | An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)
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historyNote*: | 2007(1992)
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publicMeSHNote*: | 2007; see GANGIOSIDOSIS GM1 2000-2006, see GANGLIOSIDOSIS G(M1) 1992-1999
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1991-06-21X |
dateEstablished*: | 1992-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | AGSX |
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Termer och motsvarande begrepp: | GM1-gangliosidoosi (fi, ersatt) XGM1-gangliosidoosit (fi, ersatt) Gangliosidosis, GM1 (en) Generalized Gangliosidosis (en, ersatt) Gangliosidosis GM1, Type 3 (en, ersatt) GM1 Gangliosidosis (en, ersatt) Gangliosidosis GM1, Type 2 (en, ersatt) Gangliosidosis GM1, Type 1 (en, ersatt) Gangliosidosis G(M1) (en, ersatt) G(M1) Gangliosidosis (en, ersatt) Gangliosidosis GM1 (en, ersatt) Gangliosidosis GM1, Adult (en, ersatt) Gangliosidosis GM1, Juvenile (en, ersatt) Gangliosidosis GM1, Infantile (en, ersatt) Beta-Galactosidase-1 Deficiency Disease (en, ersatt) Gangliosidosis GM1 (la-FI, ersatt) |
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