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MeSH 搜索器

Gangliosidosis, GM1

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)
推出的年份: 2007(1992)
副标题
树号: C10.228.140.163.100.435.825.300.400, C16.320.565.189.435.825.300.400, C16.320.565.398.641.803.350.360, C16.320.565.595.554.825.300.400, C18.452.132.100.435.825.300.400, C18.452.584.563.641.803.350.360, C18.452.648.189.435.825.300.400, C18.452.648.398.641.803.350.360, C18.452.648.595.554.825.300.400
MeSH 单一 ID: D016537
进入的组:
  • Gangliosidosis G(M1)
  • Gangliosidosis GM1
  • Beta-Galactosidosis
  • Beta Galactosidosis
  • Beta-Galactosidase-1 Deficiency Disease
  • Beta Galactosidase 1 Deficiency Disease
  • G(M1) Gangliosidosis
  • GM1 Gangliosidosis
  • Gangliosidosis, Generalized GM1, Type 3
  • Gangliosidosis GM1, Type 3
  • Type 3 (Adult) GM1 Gangliosidosis
  • Gangliosidosis, Generalized GM1, Chronic Type
  • Adult GM1 Gangliosidosis
  • GM1 Gangliosidosis, Adult
  • Gangliosidosis, Adult GM1
  • Gangliosidosis, Generalized GM1, Type III
  • GM1-Gangliosidosis, Type III
  • GM1 Gangliosidosis, Type III
  • GM1-Gangliosidoses, Type III
  • Type III GM1-Gangliosidoses
  • Type III GM1-Gangliosidosis
  • Gangliosidosis, Generalized GM1, Adult Type
  • Gangliosidosis GM1, Adult
  • Gangliosidosis GM1 Type 3
  • Gangliosidosis, Generalized GM1, Type 2
  • Gangliosidosis GM1, Type 2
  • GM1-Gangliosidosis, Type II
  • GM1 Gangliosidosis, Type II
  • GM1-Gangliosidoses, Type II
  • Type II GM1-Gangliosidoses
  • Type II GM1-Gangliosidosis
  • Gangliosidosis, Generalized GM1 Type 2
  • Gangliosidosis, Generalized GM1, Type II
  • Gangliosidosis GM1, Juvenile
  • Juvenile Gangliosidosis GM1
  • Gangliosidosis, Generalized GM1, Juvenile Type
  • beta-Galactosidase Deficiency
  • Deficiency, beta-Galactosidase
  • Beta-Galactosidase-1 (GLB1) Deficiency
  • beta Galactosidase 1 Deficiency
  • beta-Galactosidase-1 Deficiency
  • Deficiency, beta-Galactosidase-1
  • beta Galactosidase Deficiency
  • Deficiency, beta Galactosidase
  • GLB1 Deficiency
  • Deficiencies, GLB1
  • Deficiency, GLB1
  • Gangliosidosis, Generalized GM1, Type 1
  • Gangliosidosis GM1, Type 1
  • Generalized Gangliosidosis
  • Gangliosidosis, Generalized GM1, Type I
  • Gangliosidosis Generalized GM1, Type 1
  • GM1-Gangliosidosis, Type I
  • GM1 Gangliosidosis, Type I
  • GM1-Gangliosidoses, Type I
  • Type I GM1-Gangliosidoses
  • Type I GM1-Gangliosidosis
  • Gangliosidosis, Generalized GM1, Infantile Form
  • Gangliosidosis GM1, Infantile
  • Infantile Gangliosidosis GM1
早前的内容:
  • Gangliosidoses (1976-1991)
  • Lipoidosis (1966-1975)
  • Metabolism, Inborn Errors (1966-1975)

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