Leukodystrophy,Globoid Cell

《英文msh詞典》Leukodystrophy,Globoid Cell
[主題詞] Leukodystrophy,Globoid Cell
[同義詞] Diffuse Globoid Body Sclerosis
[同義詞] Galactosylceramidase Deficiency Disease
[同義詞] Krabbe Disease
[入口詞] Classic Globoid Cell Leukodystrophy
[入口詞] Deficiency Disease,Galactosylceramidase
[入口詞] Deficiency Disease,Galactosylceramide-beta-Galactosidase
[入口詞] Early-Onset Globoid Cell Leukodystrophy
[入口詞] Galactosylceramide-beta-Galactosidase Deficiency Disease
[入口詞] Globoid Body Sclerosis,Diffuse
[入口詞] Globoid Leukodystrophy
[入口詞] Infantile Globoid Cell Leukodystrophy
[入口詞] Krabbe Leukodystrophy
[入口詞] Krabbe's Disease
[入口詞] Krabbe's Leukodystrophy
[入口詞] Late-Onset Globoid Cell Leukodystrophy
[入口詞] Leukodystrophy,Globoid Cell,Classic
[入口詞] Leukodystrophy,Globoid Cell,Early-Onset
[入口詞] Leukodystrophy,Globoid Cell,Infantile
[入口詞] Leukodystrophy,Globoid Cell,Late-Onset
[入口詞] Deficiency Disease,Galactosylceramide beta Galactosidase
[入口詞] Deficiency Diseases,Galactosylceramidase
[入口詞] Deficiency Diseases,Galactosylceramide-beta-Galactosidase
[入口詞] Disease,Galactosylceramidase Deficiency
[入口詞] Disease,Galactosylceramide-beta-Galactosidase Deficiency
[入口詞] Diseases,Galactosylceramidase Deficiency
[入口詞] Diseases,Galactosylceramide-beta-Galactosidase Deficiency
[入口詞] Early Onset Globoid Cell Leukodystrophy
[入口詞] Galactosylceramidase Deficiency Diseases
[入口詞] Galactosylceramide-beta-Galactosidase Deficiency Diseases
[入口詞] Globoid Cell Leukodystrophies
[入口詞] Globoid Cell Leukodystrophy
[入口詞] Globoid Leukodystrophies
[入口詞] Krabbes Disease
[入口詞] Krabbes Leukodystrophy
[入口詞] Late Onset Globoid Cell Leukodystrophy
[入口詞] Leukodystrophies,Globoid
[入口詞] Leukodystrophies,Globoid Cell
[入口詞] Leukodystrophy,Globoid
[入口詞] Leukodystrophy,Krabbe
[入口詞] Leukodystrophy,Krabbe's
[中文釋義] 腦白質營養不良,球樣細胞
[英文釋義] An autosomal recessive inherited sphingolipidosis caused by a deficiency of GALACTOSYLCERAMIDASE leading to an accumulation of PSYCHOSINE in LYSOSOMES of the BRAIN; PERIPHERAL NERVES; LIVER; KIDNEY; and LEUKOCYTES. In the nervous sytem there is prominent central and peripheral demyelination. The infantile form presents at age 4-6 months with psychomotor retardation,MUSCLE SPASTICITY,and tonic spasms induced by minor stimuli. Death occurs within two years. Later onset forms of this disease are characterized by a less fulminant course. (From Menkes,Textbook of Child Neurology,5th ed,pp195-7)