Leukodystrophy, Globoid Cell
An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.
推出的年份: 1974(1963)
树号: C10.228.140.163.100.362.500, C10.228.140.163.100.435.825.590, C10.228.140.695.625.500, C10.314.400.500, C16.320.565.189.362.500, C16.320.565.189.435.825.590, C16.320.565.398.641.803.585, C16.320.565.595.554.825.590, C18.452.132.100.362.500, C18.452.132.100.435.825.590, C18.452.584.563.641.803.585, C18.452.648.189.362.500, C18.452.648.189.435.825.590, C18.452.648.398.641.803.585, C18.452.648.595.554.825.590
MeSH 单一 ID: D007965
进入的组:
Cell Leukodystrophies, Globoid
Cell Leukodystrophy, Globoid
Globoid Cell Leukodystrophies
Leukodystrophies, Globoid Cell
Psychosine Lipidosis
Diffuse Globoid Body Sclerosis
Galactosylceramidase Deficiency Disease
Deficiency Disease, Galactosylceramidase
Deficiency Diseases, Galactosylceramidase
Disease, Galactosylceramidase Deficiency
Diseases, Galactosylceramidase Deficiency
Galactosylceramidase Deficiency Diseases
Galactosylceramide-beta-Galactosidase Deficiency Disease
Deficiency Disease, Galactosylceramide-beta-Galactosidase
Deficiency Diseases, Galactosylceramide-beta-Galactosidase
Disease, Galactosylceramide-beta-Galactosidase Deficiency
Diseases, Galactosylceramide-beta-Galactosidase Deficiency
Galactosylceramide beta Galactosidase Deficiency Disease
Galactosylceramide-beta-Galactosidase Deficiency Diseases
Globoid Body Sclerosis, Diffuse
Globoid Leukodystrophy
Globoid Leukodystrophies
Leukodystrophies, Globoid
Leukodystrophy, Globoid
Krabbe Leukodystrophy
Leukodystrophy, Krabbe
Krabbe's Leukodystrophy
Krabbes Leukodystrophy
Leukodystrophy, Krabbe's
Globoid Cell Leukodystrophy
Globoid Cell Leukoencephalopathy
Cell Leukoencephalopathies, Globoid
Cell Leukoencephalopathy, Globoid
Globoid Cell Leukoencephalopathies
Leukoencephalopathies, Globoid Cell
Leukoencephalopathy, Globoid Cell
Galactocerebrosidase Deficiency
Deficiencies, Galactocerebrosidase
Deficiency, Galactocerebrosidase
Galactocerebrosidase Deficiencies
GALC Deficiency
Deficiencies, GALC
Deficiency, GALC
GALC Deficiencies
Galactosylceramide beta-Galactosidase Deficiency
Deficiencies, Galactosylceramide beta-Galactosidase
Deficiency, Galactosylceramide beta-Galactosidase
Galactosylceramide beta Galactosidase Deficiency
Galactosylceramide beta-Galactosidase Deficiencies
beta-Galactosidase Deficiencies, Galactosylceramide
beta-Galactosidase Deficiency, Galactosylceramide
Galactosylceramide Lipidosis
Galactosylcerebrosidase Deficiency
Galactosylsphingosine Lipidosis
Krabbe's Disease
Krabbes Disease
Krabbe Disease
Late-Onset Globoid Cell Leukodystrophy
Late Onset Globoid Cell Leukodystrophy
Leukodystrophy, Globoid Cell, Late-Onset
Early-Onset Globoid Cell Leukodystrophy
Early Onset Globoid Cell Leukodystrophy
Leukodystrophy, Globoid Cell, Early-Onset
Leukodystrophy, Globoid Cell, Classic
Leukodystrophy, Globoid Cell, Infantile
Classic Globoid Cell Leukodystrophy
Infantile Globoid Cell Leukodystrophy
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